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X-linked Charcot–Marie–Tooth disease

April 17, 2024

X-linked Charcot–Marie–Tooth disease is a group of genetic disorders and a type of Charcot–Marie–Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms.[1]

X-linked Charcot–Marie–Tooth disease
Other namesCMTX (abbr.)
SpecialtyMedical genetics
SymptomsSensory loss alongside muscle abnormalities
ComplicationsAccidental injuries
Usual onsetDepends on the subtype, but most of them start in infancy or early childhood
DurationLifelong
Types1, 2, 3, 4, 5, 6
CausesGenetic mutation
PreventionNone
PrognosisMedium
FrequencyRare: a limited number of families have been described in medical literature
Deaths-

Signs and symptoms edit

Symptoms vary between subtypes, but generally they can be condensed into a basic summary: individuals with this condition have symptoms that, once present, progress over time (severity increases over time), these include: muscle weakness and atrophy of the distal extremities (mostly involving feet, legs, and the thenar eminence of the hands), loss of sensation of the distal limbs, loss of reflexes of the deep tendon, high-arched feet, and (less commonly) scoliosis.[2]

Symptoms that are less frequent among X-linked CMT disease patients include dysfunctions of the transient central nervous system which are associated with dysphagia, dysarthria, ataxia, generalized body weakness, aphasia, and somnolence.[2][3]

Severe cases might exhibit proximal muscle weakness.[2]

Complications edit

There are various complications associated with this condition, they are associated with the symptoms.

One example is the localized loss of sensation characteristic of this condition which also takes temperature sensation with it, this might be dangerous due to the fact that someone might accidentally injure themselves not knowing something is hot.[4]

Types edit

Although this condition is a type of Charcot–Marie–Tooth disease in on itself, it also has various subtypes with different symptoms, the following list comprises the 6 types of X-linked CMT:

  • X-linked Charcot–Marie–Tooth disease type 1: This subtype is characterized by childhood-onset progressive severe muscle weakness and atrophy of the distal lower limbs and intrinsic hand muscles, bilateral foot drop, high-arched feet, hyporeflexia or areflexia of the tendons, and variable sensory loss of the lower limbs. Symptoms slightly less common than these ones include sensorineural deafness and problems of the central nervous system. It is inherited in an X-linked dominant manner.[5]
  • X-linked Charcot–Marie–Tooth disease type 2: This subtype is characterized by infancy/childhood-onset progressive distal muscle weakness with atrophy that affects both lower and upper extremities (although it affects the lower extremities the most), high-arched feet, and areflexia of the tendons. Symptoms that are slightly less common than these ones include sensory loss and intellectual disabilities. It is inherited in an X-linked recessive manner.[6]
  • X-linked Charcot–Marie–Tooth disease type 3: This subtype is characterized by childhood/adolescent-onset pain and numbness, progressive distal muscle weakness and atrophy which begins in the lower limbs and spreads to the upper limbs, distal upper and lower limb pain sensation loss, high-arched feet, and areflexia or hyporeflexia of the distal tendons. Spastic paraparesis has also been reported. It is inherited in an X-linked recessive manner.[7]
  • X-linked Charcot–Marie–Tooth disease type 4: This subtype is characterized by neonatal/early childhood-onset gradually progressive severe distal limb muscle weakness and atrophy (especially that affecting the peroneal muscles), sensory loss affecting upper and lower extremities (with the lower ones being affected the most), high-arched feet, generalized areflexia, and hammer toes. Sensorineural deafness and cognitive disabilities have been reported. It is inherited in an X-linked recessive manner.[8]
  • X-linked Charcot–Marie–Tooth disease type 5: This subtype is characterized by infancy/childhood-onset progressive distal limb muscle weakness and atrophy that affects both upper and lower extremities (although it is important noting that it appears and is more noticeable on the lower extremities), foot drop, gait abnormalities, bilateral severe/profound congenital hearing loss and progressive optic neuropathy. It is inherited in an X-linked recessive manner.[9]
  • X-linked Charcot–Marie–Tooth disease type 6: This subtype is characterized by childhood-onset gradual but progressive variable distal muscle weakness and atrophy affecting the lower extremities, distal limb panmodal sensorial anomalies, high-arched feet, claw toes, ankle areflexia, and steppage gait. It is inherited in an X-linked dominant manner.[10]

Genetics edit

This condition's causative X-chromosome gene depends on what subtype of CMTX one has, they are generally the following:

  • Type 1: GBJ1, located in Xq13.1[11]
  • Type 2: Xp22.2[12]
  • Type 3: Rearragement of chromosome 8q24.3 and Xq27.1.[13]
  • Type 4: AIFM1, located in Xq26.1[14]
  • Type 5: PRPS1, located in Xq22.3[15]
  • Type 6: PDK3, located in Xq22.11[16]

Diagnosis edit

This condition can be diagnosed through nerve biopsy, muscle biopsy, whole genome sequencing, alongside examination of symptoms exhibited by the patient.

Treatment edit

Although Charcot–Marie–Tooth disease has no cure, it can be treated and managed by doing the following:[17]

Treatment for physical deformities includes:[17]

Prognosis edit

Because of its X-linked nature, males with the condition tend to exhibit symptoms that are more severe than their female counterparts, who generally show very mild to no symptoms at all.[18]

Prevalence edit

Overall, it is estimated that 10-15% of all cases of Charcot–Marie–Tooth disease come from X-linked Charcot–Marie–Tooth disease.[19] It is the second most common type of Charcot–Marie–Tooth disease.[20]

According to OrphaNet, 1 out of every 100,000 people are affected by CMTX.[2]

The following information comes from the OMIM pages for the 6 subtypes of CMTX

  • Type 1: 30-50 families[21]
  • Type 2: 3 families[22]
  • Type 3: 2 families[23]
  • Type 4: 5 families[24]
  • Type 5: 7 families[25]
  • Type 6: 1 family[26]

References edit

  1. ^ "X-linked Charcot-Marie-Tooth disease - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-07-19.
  2. ^ a b c d RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  3. ^ Wen, Qingxian; Cao, Longqiao; Yang, Cun; Xie, Yanchen (2018). "The Electrophysiological Features in X-Linked Charcot-Marie-Tooth Disease With Transient Central Nervous System Deficits". Frontiers in Neurology. 9: 461. doi:10.3389/fneur.2018.00461. ISSN 1664-2295. PMC 6036262. PMID 30013503.
  4. ^ "Loss of Sensation: Safety Tips". Saint Luke's Health System. Retrieved 2022-07-19.
  5. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease type 1". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  6. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease type 2". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  7. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease type 3". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  8. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease type 4". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  9. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease type 5". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  10. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: X linked Charcot Marie Tooth disease type 6". www.orpha.net. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
  11. ^ Casasnovas, C.; Banchs, I.; Corral, J.; Martínez-Matos, J. A.; Volpini, V. (December 2006). "Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population". Clinical Genetics. 70 (6): 516–523. doi:10.1111/j.1399-0004.2006.00724.x. ISSN 0009-9163. PMID 17100997. S2CID 33420059.
  12. ^ Ionasescu, V. V.; Trofatter, J.; Haines, J. L.; Summers, A. M.; Ionasescu, R.; Searby, C. (January 1992). "X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study". Muscle & Nerve. 15 (3): 368–373. doi:10.1002/mus.880150317. ISSN 0148-639X. PMID 1557086. S2CID 22212539.
  13. ^ Brewer, Megan H.; Chaudhry, Rabia; Qi, Jessica; Kidambi, Aditi; Drew, Alexander P.; Menezes, Manoj P.; Ryan, Monique M.; Farrar, Michelle A.; Mowat, David; Subramanian, Gopinath M.; Young, Helen K. (July 2016). "Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3". PLOS Genetics. 12 (7): e1006177. doi:10.1371/journal.pgen.1006177. ISSN 1553-7404. PMC 4954712. PMID 27438001.
  14. ^ Rinaldi, Carlo; Grunseich, Christopher; Sevrioukova, Irina F.; Schindler, Alice; Horkayne-Szakaly, Iren; Lamperti, Costanza; Landouré, Guida; Kennerson, Marina L.; Burnett, Barrington G.; Bönnemann, Carsten; Biesecker, Leslie G. (2012-12-07). "Cowchock syndrome is associated with a mutation in apoptosis-inducing factor". American Journal of Human Genetics. 91 (6): 1095–1102. doi:10.1016/j.ajhg.2012.10.008. ISSN 1537-6605. PMC 3516602. PMID 23217327.
  15. ^ Kim, Hee-Jin; Sohn, Kwang-Min; Shy, Michael E.; Krajewski, Karen M.; Hwang, Miok; Park, June-Hee; Jang, Sue-Yon; Won, Hong-Hee; Choi, Byung-Ok; Hong, Sung Hwa; Kim, Byoung-Joon (September 2007). "Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5)". American Journal of Human Genetics. 81 (3): 552–558. doi:10.1086/519529. ISSN 0002-9297. PMC 1950833. PMID 17701900.
  16. ^ Kennerson, Marina L.; Yiu, Eppie M.; Chuang, David T.; Kidambi, Aditi; Tso, Shih-Chia; Ly, Carolyn; Chaudhry, Rabia; Drew, Alexander P.; Rance, Gary; Delatycki, Martin B.; Züchner, Stephan (2013-04-01). "A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene". Human Molecular Genetics. 22 (7): 1404–1416. doi:10.1093/hmg/dds557. ISSN 1460-2083. PMC 3596851. PMID 23297365.
  17. ^ a b "Charcot-Marie-Tooth disease - Treatment". nhs.uk. 2018-10-03. Retrieved 2022-07-19.
  18. ^ "Charcot-Marie-Tooth disease: MedlinePlus Genetics". medlineplus.gov. Retrieved 2022-07-19.
  19. ^ "CMTX - Types of Charcot-Marie-Tooth Disease (CMT) - Diseases". Muscular Dystrophy Association. 2015-12-23. Retrieved 2022-07-19.
  20. ^ Scherer, Steven S.; Kleopa, Kleopas A. (December 2012). "X-linked Charcot-Marie-Tooth disease". Journal of the Peripheral Nervous System. 17 (3): 9–13. doi:10.1111/j.1529-8027.2012.00424.x. ISSN 1085-9489. PMC 3779456. PMID 23279425.
  21. ^ "Entry - #302800 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1; CMTX1 - OMIM". omim.org. Retrieved 2022-07-19.
  22. ^ "Entry - %302801 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 2; CMTX2 - OMIM". omim.org. Retrieved 2022-07-19.
  23. ^ "Entry - #302802 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 3; CMTX3 - OMIM". omim.org. Retrieved 2022-07-19.
  24. ^ "Entry - #310490 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 - OMIM". omim.org. Retrieved 2022-07-19.
  25. ^ "Entry - #311070 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5; CMTX5 - OMIM". omim.org. Retrieved 2022-07-19.
  26. ^ "Entry - #300905 - CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 6; CMTX6 - OMIM". omim.org. Retrieved 2022-07-19.

April 17, 2024
linked, charcot, marie, tooth, disease, group, genetic, disorders, type, charcot, marie, tooth, disease, characterized, sensory, loss, associated, with, muscle, weakness, atrophy, alongside, many, other, symptoms, other, namescmtx, abbr, specialtymedical, gene. X linked Charcot Marie Tooth disease is a group of genetic disorders and a type of Charcot Marie Tooth disease characterized by sensory loss associated with muscle weakness and atrophy alongside many other symptoms 1 X linked Charcot Marie Tooth diseaseOther namesCMTX abbr SpecialtyMedical geneticsSymptomsSensory loss alongside muscle abnormalitiesComplicationsAccidental injuriesUsual onsetDepends on the subtype but most of them start in infancy or early childhoodDurationLifelongTypes1 2 3 4 5 6CausesGenetic mutationPreventionNonePrognosisMediumFrequencyRare a limited number of families have been described in medical literatureDeaths Contents 1 Signs and symptoms 2 Complications 3 Types 4 Genetics 5 Diagnosis 6 Treatment 7 Prognosis 8 Prevalence 9 ReferencesSigns and symptoms editSymptoms vary between subtypes but generally they can be condensed into a basic summary individuals with this condition have symptoms that once present progress over time severity increases over time these include muscle weakness and atrophy of the distal extremities mostly involving feet legs and the thenar eminence of the hands loss of sensation of the distal limbs loss of reflexes of the deep tendon high arched feet and less commonly scoliosis 2 Symptoms that are less frequent among X linked CMT disease patients include dysfunctions of the transient central nervous system which are associated with dysphagia dysarthria ataxia generalized body weakness aphasia and somnolence 2 3 Severe cases might exhibit proximal muscle weakness 2 Complications editThere are various complications associated with this condition they are associated with the symptoms One example is the localized loss of sensation characteristic of this condition which also takes temperature sensation with it this might be dangerous due to the fact that someone might accidentally injure themselves not knowing something is hot 4 Types editAlthough this condition is a type of Charcot Marie Tooth disease in on itself it also has various subtypes with different symptoms the following list comprises the 6 types of X linked CMT X linked Charcot Marie Tooth disease type 1 This subtype is characterized by childhood onset progressive severe muscle weakness and atrophy of the distal lower limbs and intrinsic hand muscles bilateral foot drop high arched feet hyporeflexia or areflexia of the tendons and variable sensory loss of the lower limbs Symptoms slightly less common than these ones include sensorineural deafness and problems of the central nervous system It is inherited in an X linked dominant manner 5 X linked Charcot Marie Tooth disease type 2 This subtype is characterized by infancy childhood onset progressive distal muscle weakness with atrophy that affects both lower and upper extremities although it affects the lower extremities the most high arched feet and areflexia of the tendons Symptoms that are slightly less common than these ones include sensory loss and intellectual disabilities It is inherited in an X linked recessive manner 6 X linked Charcot Marie Tooth disease type 3 This subtype is characterized by childhood adolescent onset pain and numbness progressive distal muscle weakness and atrophy which begins in the lower limbs and spreads to the upper limbs distal upper and lower limb pain sensation loss high arched feet and areflexia or hyporeflexia of the distal tendons Spastic paraparesis has also been reported It is inherited in an X linked recessive manner 7 X linked Charcot Marie Tooth disease type 4 This subtype is characterized by neonatal early childhood onset gradually progressive severe distal limb muscle weakness and atrophy especially that affecting the peroneal muscles sensory loss affecting upper and lower extremities with the lower ones being affected the most high arched feet generalized areflexia and hammer toes Sensorineural deafness and cognitive disabilities have been reported It is inherited in an X linked recessive manner 8 X linked Charcot Marie Tooth disease type 5 This subtype is characterized by infancy childhood onset progressive distal limb muscle weakness and atrophy that affects both upper and lower extremities although it is important noting that it appears and is more noticeable on the lower extremities foot drop gait abnormalities bilateral severe profound congenital hearing loss and progressive optic neuropathy It is inherited in an X linked recessive manner 9 X linked Charcot Marie Tooth disease type 6 This subtype is characterized by childhood onset gradual but progressive variable distal muscle weakness and atrophy affecting the lower extremities distal limb panmodal sensorial anomalies high arched feet claw toes ankle areflexia and steppage gait It is inherited in an X linked dominant manner 10 Genetics editThis condition s causative X chromosome gene depends on what subtype of CMTX one has they are generally the following Type 1 GBJ1 located in Xq13 1 11 Type 2 Xp22 2 12 Type 3 Rearragement of chromosome 8q24 3 and Xq27 1 13 Type 4 AIFM1 located in Xq26 1 14 Type 5 PRPS1 located in Xq22 3 15 Type 6 PDK3 located in Xq22 11 16 Diagnosis editThis condition can be diagnosed through nerve biopsy muscle biopsy whole genome sequencing alongside examination of symptoms exhibited by the patient Treatment editAlthough Charcot Marie Tooth disease has no cure it can be treated and managed by doing the following 17 Physiotherapy Occupational therapy Orthoses Walking aids Non steroidal antiinflammatory medication Tricylic antidepressants or anti convulsantsTreatment for physical deformities includes 17 Osteotomy Arthrodesis Plantar fascia release Spinal surgeryPrognosis editBecause of its X linked nature males with the condition tend to exhibit symptoms that are more severe than their female counterparts who generally show very mild to no symptoms at all 18 Prevalence editOverall it is estimated that 10 15 of all cases of Charcot Marie Tooth disease come from X linked Charcot Marie Tooth disease 19 It is the second most common type of Charcot Marie Tooth disease 20 According to OrphaNet 1 out of every 100 000 people are affected by CMTX 2 The following information comes from the OMIM pages for the 6 subtypes of CMTX Type 1 30 50 families 21 Type 2 3 families 22 Type 3 2 families 23 Type 4 5 families 24 Type 5 7 families 25 Type 6 1 family 26 References edit X linked Charcot Marie Tooth disease About the Disease Genetic and Rare Diseases Information Center rarediseases info nih gov Retrieved 2022 07 19 a b c d RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link Wen Qingxian Cao Longqiao Yang Cun Xie Yanchen 2018 The Electrophysiological Features in X Linked Charcot Marie Tooth Disease With Transient Central Nervous System Deficits Frontiers in Neurology 9 461 doi 10 3389 fneur 2018 00461 ISSN 1664 2295 PMC 6036262 PMID 30013503 Loss of Sensation Safety Tips Saint Luke s Health System Retrieved 2022 07 19 RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease type 1 www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease type 2 www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease type 3 www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease type 4 www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease type 5 www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link RESERVED INSERM US14 ALL RIGHTS Orphanet X linked Charcot Marie Tooth disease type 6 www orpha net Retrieved 2022 07 19 a href Template Cite web html title Template Cite web cite web a CS1 maint numeric names authors list link Casasnovas C Banchs I Corral J Martinez Matos J A Volpini V December 2006 Clinical and molecular analysis of X linked Charcot Marie Tooth disease type 1 in Spanish population Clinical Genetics 70 6 516 523 doi 10 1111 j 1399 0004 2006 00724 x ISSN 0009 9163 PMID 17100997 S2CID 33420059 Ionasescu V V Trofatter J Haines J L Summers A M Ionasescu R Searby C January 1992 X linked recessive Charcot Marie Tooth neuropathy clinical and genetic study Muscle amp Nerve 15 3 368 373 doi 10 1002 mus 880150317 ISSN 0148 639X PMID 1557086 S2CID 22212539 Brewer Megan H Chaudhry Rabia Qi Jessica Kidambi Aditi Drew Alexander P Menezes Manoj P Ryan Monique M Farrar Michelle A Mowat David Subramanian Gopinath M Young Helen K July 2016 Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot Marie Tooth Neuropathy CMTX3 PLOS Genetics 12 7 e1006177 doi 10 1371 journal pgen 1006177 ISSN 1553 7404 PMC 4954712 PMID 27438001 Rinaldi Carlo Grunseich Christopher Sevrioukova Irina F Schindler Alice Horkayne Szakaly Iren Lamperti Costanza Landoure Guida Kennerson Marina L Burnett Barrington G Bonnemann Carsten Biesecker Leslie G 2012 12 07 Cowchock syndrome is associated with a mutation in apoptosis inducing factor American Journal of Human Genetics 91 6 1095 1102 doi 10 1016 j ajhg 2012 10 008 ISSN 1537 6605 PMC 3516602 PMID 23217327 Kim Hee Jin Sohn Kwang Min Shy Michael E Krajewski Karen M Hwang Miok Park June Hee Jang Sue Yon Won Hong Hee Choi Byung Ok Hong Sung Hwa Kim Byoung Joon September 2007 Mutations in PRPS1 which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis cause hereditary peripheral neuropathy with hearing loss and optic neuropathy cmtx5 American Journal of Human Genetics 81 3 552 558 doi 10 1086 519529 ISSN 0002 9297 PMC 1950833 PMID 17701900 Kennerson Marina L Yiu Eppie M Chuang David T Kidambi Aditi Tso Shih Chia Ly Carolyn Chaudhry Rabia Drew Alexander P Rance Gary Delatycki Martin B Zuchner Stephan 2013 04 01 A new locus for X linked dominant Charcot Marie Tooth disease CMTX6 is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 PDK3 gene Human Molecular Genetics 22 7 1404 1416 doi 10 1093 hmg dds557 ISSN 1460 2083 PMC 3596851 PMID 23297365 a b Charcot Marie Tooth disease Treatment nhs uk 2018 10 03 Retrieved 2022 07 19 Charcot Marie Tooth disease MedlinePlus Genetics medlineplus gov Retrieved 2022 07 19 CMTX Types of Charcot Marie Tooth Disease CMT Diseases Muscular Dystrophy Association 2015 12 23 Retrieved 2022 07 19 Scherer Steven S Kleopa Kleopas A December 2012 X linked Charcot Marie Tooth disease Journal of the Peripheral Nervous System 17 3 9 13 doi 10 1111 j 1529 8027 2012 00424 x ISSN 1085 9489 PMC 3779456 PMID 23279425 Entry 302800 CHARCOT MARIE TOOTH DISEASE X LINKED DOMINANT 1 CMTX1 OMIM omim org Retrieved 2022 07 19 Entry 302801 CHARCOT MARIE TOOTH DISEASE X LINKED RECESSIVE 2 CMTX2 OMIM omim org Retrieved 2022 07 19 Entry 302802 CHARCOT MARIE TOOTH DISEASE X LINKED RECESSIVE 3 CMTX3 OMIM omim org Retrieved 2022 07 19 Entry 310490 CHARCOT MARIE TOOTH DISEASE X LINKED RECESSIVE 4 WITH OR WITHOUT CEREBELLAR ATAXIA CMTX4 OMIM omim org Retrieved 2022 07 19 Entry 311070 CHARCOT MARIE TOOTH DISEASE X LINKED RECESSIVE 5 CMTX5 OMIM omim org Retrieved 2022 07 19 Entry 300905 CHARCOT MARIE TOOTH DISEASE X LINKED DOMINANT 6 CMTX6 OMIM omim org Retrieved 2022 07 19 Retrieved from https en wikipedia org w index php title X linked Charcot Marie Tooth disease amp oldid 1172165416, 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