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[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].

No to hattatsu = Brain and development - 1 Nov 2013

Sudo Akira, Hayashi Yukiko, Sano Hitomi, Kawamura Nobuaki, Nishino Ichizo, Nonaka Ikuya

Abstract excerpt

Severe infantile form of nemaline myopathy is clinically characterized by marked muscle hypotonia and weakness with respiratory and feeding difficulties since infancy. Recently, mutations in the skeletal muscle alpha-actine gene (ACTA1) have been identified in many patients with the nemaline myopathy. We experienced two cases of severe infantile form of nemaline myopathy with ACTA1 mutation (missence heterozygous...

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Actins
ACTA1 gene
Infant, Newborn
Muscle, Skeletal
Muscular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myopathies, Nemaline

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Identifiers

PMID: 24313005

Genes

ACTA1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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[Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].PMID 24313005Read ↗

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