Nemaline myopathy (NM) is a common form of congenital nondystrophic skeletal muscle
disease characterized by muscular weakness of proximal dominance, hypotonia, and …

Nemaline myopathy (NM) is a group of congenital myopathies, characterized by the
presence of distinct rod‐like inclusions “nemaline bodies” in the sarcoplasm of skeletal …

Nemaline myopathy (NM) is a muscle disorder with broad clinical and genetic heterogeneity.
The clinical presentation of affected individuals ranges from severe perinatal muscle …

Congenital myopathies are phenotypically and genetically heterogeneous. We describe
homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive …

TPM3: mainly dominant, missense variants; 1, 2 however, some recessive variants have
been described. 3, 4 A 1bp recessive deletion occurs as a founder variant in the Turkish …

Nemaline myopathy (NM) is a clinically and genetically heterogeneous disorder
characterized by muscle weakness and the presence of nemaline bodies (rods) in skeletal …

Nemaline Myopathy with Intranuclear Rods is a rare variant of nemaline myopathy, due in
almost all instances to mutation of ACTA1, the gene encoding skeletal muscle α-actin. We …

ACTA1 encodes skeletal muscle-specific α-actin, which polymerizes to form the thin filament
of the sarcomere. Mutations in ACTA1 are responsible for approximately 30% of nemaline …

Nemaline myopathy (NM) is a genetic muscle disorder characterized by muscle dysfunction
and electron-dense protein accumulations (nemaline bodies) in myofibers. Pathogenic …

Nemaline myopathy (NM), a structural congenital myopathy, presents a significant clinical
and genetic heterogeneity. Here, we compiled molecular and clinical data of 30 Brazilian …