Table 2.

Genes of Interest in the Differential Diagnosis of GNE Myopathy

GeneDisorderMOIAge at Onset (Years)Initial Muscle Group InvolvedSerum Creatine Kinase ConcentrationMuscle Biopsy
ANO5 Miyoshi muscular dystrophy 3 (See ANO5 Muscle Disease.)AR20-25Posterior lower legs; asymmetry>10x ULNMyopathic changes & (rarely) necrotic fibers
DNAJB6 LGMD1D 1 (OMIM 603511)AD18-50Lower leg posterior > anterior; ± dysphagiaNormal to 8x ULNMyofibrillar myopathy 2 & rimmed vacuoles
DYSF Miyoshi distal myopathy (See Dysferlinopathy.)AR15-30Posterior lower leg>10x ULNMyopathic changes
LDB3 (ZASP)Zaspopathy 3 (myofibrillar myopathy 4) (OMIM 609452)AD40-70Lower legNormal to 6x ULNMyofibrillar myopathy 2 ± rimmed vacuoles
MATR3 Amyotrophic lateral sclerosis 21 4 (OMIM 606070)AD35-60Asymmetric lower leg ± hands; dysphagia; dysphoniaNormal to 8x ULNMyopathic changes & rimmed vacuoles
MYH7 Laing distal myopathy 5AD0-50Anterior lower legNormal to 4x ULNType 1 fiber atrophy
MYOT Myotilinopathy 6 (myofibrillar myopathy 3) (OMIM 609200)AD40-70Lower leg post > antNormal to 2x ULNMyofibrillar myopathy 2 ± rimmed vacuoles
TIA1 Welander distal myopathy 7 (OMIM 604454)AD40-60Finger extensorsNormal or slightly ↑Myopathic changes & rimmed vacuoles
TTN (exon 364)Udd distal myopathy – tibial muscular dystrophy 8AD>35Anterior lower legNormal or slightly ↑Myopathic changes ± rimmed vacuoles
TTN Limb-girdle muscular dystrophy, autosomal recessive, 10 8 (LGMDR10) (OMIM 608807)AR14-44Anterior lower legNormal to 8x ULNMyopathic changes ± rimmed vacuoles
VCP Inclusion body myopathy, Paget disease & frontotemporal dementia 9; (IBMPFD)AD>35Hip girdleNormal to 5x ULNMyopathic changes & rimmed vacuoles

Modified from Udd & Griggs [2001]

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; ULN = upper limit of normal; XL = X-linked

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Histopathologic characteristics of myofibrillar myopathies include variation in fiber size, amorphous granular or hyaline deposits on trichrome-stained sections, and decrease of oxidative enzyme activities leading to abnormal fibers.

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From: GNE Myopathy

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