Table 2.

Distal Myopathies

Gene 1MOIDisorderClinical ManifestationsGeneReview / OMIM
Mean Age of OnsetInitial Muscle Group Involved
ANO5 ARMiyoshi dystrophy type 3 ANO5-Related Muscle Diseases
CAV3 AD
AR		Distal myopathyOMIM PS601419
CRYAB ADDistal myofibrillar myopathyAdultDistal leg & hands + cardiomyopathy
DES AD
AR		Mesminopathy myofibrillar myopathy15-40 yrsDistal leg & forearm + cardiomyopathy
DNAJB6 ADMyofibrillar myopathyTeens-adultDistal leg
DYSF ARMiyoshi early-adult-onset myopathy15-20 yrsPosterior compartment in legs Dysferlinopathy
FLNC ADDistal myopathy 4OMIM 614065
GNE ARNonaka early-adult-onset distal myopathy15-20 yrsAnterior compartment in legs GNE-Related Myopathy
LDB3 ADZaspopathy (Markesbery-Griggs late-onset distal myopathy)>40 yrsAnterior compartment in legsOMIM PS601419
MATR3 ADAmyotrophic lateral sclerosis 21 (Formerly MPD2)35-60 yrsAsymmetric lower leg & hands, dysphoniaAmyotrophic Lateral Sclerosis Overview, OMIM 606070
MYH7 ADLaing early-onset distal myopathy<20 yrsAnterior compartment in legs & neck flexors Laing Distal Myopathy
MYOT ADDistal myotilinopathy>40 yrsPosterior > anterior in legsOMIM PS601419
NEB ARDistal nebulin myopathy2-15 yrsAnterior lower legOMIM 256030
TIA1 AD
AR		Welander distal myopathy>40 yrsDistal upper limbs (finger & wrist extensors)OMIM 604454
TCAP ARDistal onset in telethoninopathyEarlyLower legOMIM 601954
TTN ADUdd distal myopathy>35 yrsAnterior compartment in legs Udd Distal Myopathy
1.

Genes are listed in alphabetic order.

From: Charcot-Marie-Tooth Hereditary Neuropathy Overview

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