Recent advances in nemaline myopathy
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Recent advances in nemaline myopathy. / Laitila, Jenni; Wallgren-Pettersson, Carina.
In: Neuromuscular Disorders, Vol. 31, No. 10, 2021, p. 955-967.Research output: Contribution to journal › Review › Research › peer-review
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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 -
ID: 286012259