TY - JOUR

T1 - Recent advances in nemaline myopathy

AU - Laitila, Jenni

AU - Wallgren-Pettersson, Carina

PY - 2021

Y1 - 2021

N2 - The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding structural or regulatory proteins of the thin filament, and the clinical picture as well as the histological appearance on muscle biopsy vary widely. Here, we suggest a renewed clinical classification to replace the original one, summarise what is known about the pathogenesis from mutations in each causative gene to the forms of nemaline myopathy described to date, and provide perspectives on pathogenetic mechanisms possibly open to therapeutic modalities.

AB - The nemaline myopathies constitute a large proportion of the congenital or structural myopathies. Common to all patients is muscle weakness and the presence in the muscle biopsy of nemaline rods. The causative genes are at least twelve, encoding structural or regulatory proteins of the thin filament, and the clinical picture as well as the histological appearance on muscle biopsy vary widely. Here, we suggest a renewed clinical classification to replace the original one, summarise what is known about the pathogenesis from mutations in each causative gene to the forms of nemaline myopathy described to date, and provide perspectives on pathogenetic mechanisms possibly open to therapeutic modalities.

KW - Clinical

KW - Congenital myopathy

KW - Functional

KW - Genetics

KW - Nemaline (rod) myopathy

KW - Pathogenesis

UR - http://www.scopus.com/inward/record.url?scp=85115400709&partnerID=8YFLogxK

U2 - 10.1016/j.nmd.2021.07.012

DO - 10.1016/j.nmd.2021.07.012

M3 - Review

C2 - 34561123

AN - SCOPUS:85115400709

VL - 31

SP - 955

EP - 967

JO - Journal of Neuromuscular Diseases

JF - Journal of Neuromuscular Diseases

SN - 0960-8966

IS - 10

ER -