Chinese Journal of Contemporary Neurology and NeurosurgeryObjective Summarize the pathological and clinical characteristics of muscle disorder cases with nemaline⁃shaped structure, to improve the diagnosis and differential diagnosis of the disease.
ZHENG Dan⁃feng +6 more
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Function of a mutant ryanodine receptor (T4709M) linked to congenital myopathy. [PDF]
Sci Rep, 2023 Magyar ZÉ +4 more
europepmc +1 more source
Establishing prevalence in rare neuromuscular diseases: A lesson from congenital myopathies [PDF]
, 2017 Bamaga, Ahmed K., Weihl, Conrad C.
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Congenital myopathy presenting as recurrent pneumonia with lung collapse and pulmonary artery hypertension. [PDF]
BMJ Case Rep, 2023 Vardhan A +5 more
europepmc +1 more source
Neurotransmitter-gated ion channels at fast chemical synapses: from structure to pathology [PDF]
, 2005 Fil: Bouzat, Cecilia Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Bahía Blanca. Instituto de Investigaciones Bioquímicas de Bahía Blanca. Universidad Nacional del Sur.
Bouzat, Cecilia Beatriz
core
Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects. [PDF]
Brain, 2023 Roos A +32 more
europepmc +1 more source
Study of actin mutations linked to muscle disease
, 2008 Imperial Users ...
Feng , Juanjuan, Feng , Juanjuan
core
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review. [PDF]
J Neuromuscul Dis, 2023 Bouman K +7 more
europepmc +1 more source
Novel TTN Mutation Causing Severe Congenital Myopathy and Uncertain Association with Infantile Hydrocephalus. [PDF]
Case Rep Genet, 2023 Balasundaram P +4 more
europepmc +1 more source
Abnormal myosin post-translational modifications and ATP turnover time associated with human congenital myopathy-related RYR1 mutations. [PDF]
Acta Physiol (Oxf), 2023 Sonne A +10 more
europepmc +1 more source