Results 91 to 100 of about 1,216 (116)

ePoster

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Nemaline myopathy: description of an adult onset case.

, 2002
Nemaline myopathy is a rare congenital muscle disease, with neonatal or adult onset. We report clinical and ultrastructural study of a 73-year-old woman whose symptoms manifested at age 40 years with proximal muscle weakness, nocturnal cramps, muscle ...
Dotti M, Malandrini A, Mondelli M, Federico A, Gambelli S, Ginanneschi F   +5 more
core   +1 more source

Generation of a novel mouse model of nemaline myopathy due to recurrent NEB exon 55 deletion

Skeletal Muscle
Biallelic pathogenic variants in the nebulin (NEB) gene lead to the congenital muscle disease nemaline myopathy. In-frame deletion of exon 55 (ΔExon55) is the most common disease-causing variant in NEB.
Zachary Coulson, Justin Kolb, Nesrin Sabha, Esmat Karimi, Zaynab Hourani, Coen Ottenheijm, Henk Granzier, James J. Dowling   +7 more
doaj   +1 more source

Nemaline Myopathy - Enzyme Histochemical and Ultrastructural Study-

, 1990
We describe two cases of congenital nemaline myopathy presented with gait disturbance due to calcaneocavovalgus deformity. They showed characteristic dysmorphic features, i.e., an elongated face, antegraded chin, and high-arched palate.
Park, Sung Hye, Hwang, Yong Seung, Chi, Je Geun   +2 more
core  

Slow myosin heavy chain isozyme in nemaline myopathy.

, 1985
Muscle biopsies from two sporadic cases of congenital nemaline myopathy were examined for myosin heavy chain composition. Electrophoresis of congenital nemaline myopathy (CNM) muscle myosin in SDS-5% polyacrylamide gels gave rise to a single heavy chain ...
Scarpini E, DAMIANI, ERNESTO, MARGRETH, ALFREDO, Biral D, Scarlato G.   +4 more
core   +1 more source

‘Amish Nemaline Myopathy’ in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene

, 2019
Amish Nemaline Myopathy is a severe form of nemaline myopathy associated to mutation in TNNT1 gene, firstly reported among the Old Order Amish. Here we report two Italian siblings who manifested, by the age of 7 months, progressive and severe muscle ...
Maria B. Chiarini Testa, Michela Catteruccia, Claudio Bruno, Maria Giovanna Paglietti, Fabiana Fattori, Margherita Verardo, Enrico Bertini, Adele D’Amico, Chiara Fiorillo   +8 more
core   +1 more source

Recent advances in nemaline myopathy [PDF]

Neuromuscular Disorders, 2021
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.
Jenni M Laitila
exaly   +2 more sources

Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function [PDF]

Acta Neuropathologica, 2015
Nemaline myopathy is characterized by muscle weakness and the presence of rod-like (nemaline) bodies. The genetic etiology of nemaline myopathy is becoming increasingly understood with mutations in ten genes now known to cause the disease.
Nigel G Laing, Peter D. Currie, Kristen L Nowak   +2 more
exaly   +2 more sources

A new phenotype of autosomal dominant nemaline myopathy

Neuromuscular Disorders, 2002
We present a five-generation family with a novel phenotype of autosomal dominant nemaline myopathy not linked to the three genes known to be causative for nemaline myopathy (alpha-tropomyosin-3, nebulin, and alpha-actin).
Hannie Kremer, Martin Lammens, H J Ter Laak   +2 more
exaly   +2 more sources

Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopy

Neuromuscular Disorders, 1995
To elucidate the protein composition of the nemaline bodies present in the muscle fibres of patients with congenital nemaline myopathy (CNM), we studied muscle biopsies with monoclonal antibodies against α-actinin and desmin in combination with a ...
Angus Clarke, Juhani Rapola, G E Morris
exaly   +2 more sources