Case Report

Late-Onset Pompe Disease with Nemaline Bodies

Table 1

Genetic and acquired etiologies of NB myopathy.

Etiologies of NB MyopathyNB in other neuromuscular disorders

AD: NEB, ACTA1, TPM3, TPM2Myopathy
AR: ACTA1, TPM3, TPM2, TNNT1, CFL2, KBTBD13, KLHL40, KLHL41, LMOD3, MYPN, MYO18BIdiopathic inflammatory myopathies
Acute alcoholic myopathy
Myotonic dystrophy
Mitochondrial myopathy
GYG1 polyglucosan body myopathy
Late-onset Pompe disease
MGUSSpinal muscular atrophy
HIV- associated myopathyAmyotrophic lateral sclerosis
Charcot-Marie-Tooth disease
Chronic renal failure

Keys: genes are written in italic font; AD, autosomal dominant; AR, autosomal recessive; NB, nemaline body; MGUS, monoclonal gammopathy of undetermined significance.