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Hereditary: See CMT syndromes

Autosomal DominantAutosomal RecessiveX-LinkedOther NeuromuscularOMIM 600261
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nother/myelin.html#Hereditary: See CMT syndromes

Overview

From WUSTL Neuromuscular

Carbohydrate-deficient glycoprotein Cataracts & Facial dysmorphism Cockayne's syndrome Congenital hypomyelinating Congenital muscular dystrophy: Merosin deficient Farber's disease (Lipogranulomatosis) HMSN & CMT Dominant: IA, IB, III, HNPP, EGR2, Thermosensitive Recessive: III (Dejerine-Sottas); 4A; 4B; 4B2; 4C; 4D (LOM); 4E; 4F; HMSN-R; CNS X-linked: IX Krabbe Marinesco-Sjögren Metachromatic Leukodystrophy Niemann-Pick Pelizaeus-Merzbacher (PLP) Refsum Prion protein (PrP27-30): Glu200Lys mutation Creutzfeld-Jakob disease Mouse model: Prion over expression Salla disease SOX10: Waardenburg-Shah

OMIM Entries

OMIM #600261

External Resources

WUSTL Neuromuscular
Washington University Disease Center
OMIM
Online Mendelian Inheritance in Man
PubMed
Biomedical Literature
GeneReviews
NCBI Expert-Authored Reviews
Orphanet
Portal for Rare Diseases
NORD
National Organization for Rare Disorders

Data sourced from the Washington University Neuromuscular Disease Center. For clinical use, always refer to primary sources.