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Article

Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.

Journal of neuropathology and experimental neurology - 1 Jun 2013

Lindqvist Johan, Cheng Arthur J, Renaud Guillaume, Hardeman Edna C, Ochala Julien

Abstract excerpt

Nemaline myopathy is the most common congenital myopathy and is caused by mutations in various genes such as ACTA1 (encoding skeletal α-actin). It is associated with limb and respiratory muscle weakness. Despite increasing clinical and scientific interest, the molecular and cellular events leading to such weakness remain unknown, which prevents the development of specific therapeutic interventions. To unravel the...

Topics

Actins
Animals
Biomechanical Phenomena
Diaphragm
Extremities
Humans
Male
Mice
Mice, Transgenic
Muscle Fibers, Skeletal
Muscle Weakness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myopathies, Nemaline

Organ Culture Techniques

Respiratory Muscles

Source

Identifiers

PMID: 23656990
DOI: 10.1097/NEN.0b013e318293b1cc

Genes

ACTA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.PMID 23656990Read ↗

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