Nemaline myopathy 3

Common Name(s)

Nemaline myopathy 3

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles ({17:Ilkovski et al., 2001}). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease ({31:North et al., 1997}; {53:Wallgren-Pettersson et al., 1999}; {37:Ryan et al., 2001}; {38:Sanoudou and Beggs, 2001}). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease ({53:Wallgren-Pettersson et al., 1999}; {38:Sanoudou and Beggs, 2001}). Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors ({32:Nowak et al., 1999}; {23:Kaindl et al., 2004}). Genetic Heterogeneity of Nemaline Myopathy See also NEM1 ({609284}), caused by mutation in the tropomyosin-3 gene (TPM3; {191030}) on chromosome 1q22; NEM2 ({256030}), caused by mutation in the nebulin gene (NEB; {161650}) on chromosome 2q22; NEM4 ({609285}), caused by mutation in the beta-tropomyosin gene (TPM2; {190990}) on chromosome 9p13; NEM5 ({605355}), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1; {191041}) on chromosome 19q13; NEM6 ({609723}), caused by mutation in the KBTBD13 gene ({613727}) on chromosome 15q22.31, NEM7 ({610687}), caused by mutation in the cofilin-2 gene (CFL2; {601443}) on chromosome 14q12; NEM8 ({615348}), caused by mutation in the KLHL40 gene ({615340}), on chromosome 3p22; and NEM9 ({615731}), caused by mutation in the KLHL41 gene ({607701}) on chromosome 2q31. Several of the genes encode components of skeletal muscle sarcomeric thin filaments ({38:Sanoudou and Beggs, 2001}). Mutations in the NEB gene are the most common cause of nemaline myopathy ({25:Lehtokari et al., 2006}).
 

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