Atrial Septal Defect, Neuromuscular Junction and Skeletal Abnormalities in Spinal Muscular Atrophy Type III

Myasthenia gravis, myopathy, muscular dystrophy, or peripheral neuropathies were excluded. [...]he was diagnosed as SMA Type III. SMN protein is localized at NMJs and evidence for the role in NMJ of SMA is provided by the failure of cultured patients' muscle cells to cluster acetylcholine recep...

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Bibliographic Details
Published in:Chinese medical journal 2017-10, Vol.130 (19), p.2382-2383
Main Authors: Luan, Xing-Hua, Liu, Jun
Format: Article
Language:English
Subjects:
Age
Atrial Septal Defect
Multi-organ Diseases
Neuromuscular Junction
Skeletal Abnormalities
Spinal Muscular Atrophy Type III
Atrophy
Clinical Observation
Complications and side effects
Defects
Family medical history
Genetic aspects
Height
Infant mortality
Neuromuscular diseases
Osteoporosis
Patients
Pulmonary arteries
Risk factors
Spinal muscular atrophy
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Summary:Myasthenia gravis, myopathy, muscular dystrophy, or peripheral neuropathies were excluded. [...]he was diagnosed as SMA Type III. SMN protein is localized at NMJs and evidence for the role in NMJ of SMA is provided by the failure of cultured patients' muscle cells to cluster acetylcholine receptors (AChRs) and alterations in AChR clustering, misplacement, accumulation of synaptic vesicles in SMA Type I fetal samples. [3] The evidence suggests SMA goes beyond the motor system and might be a multi-organ disease, including muscle, brain, heart, vasculature, bone, pancreas, liver, lung, and intestine.
ISSN:0366-6999
DOI:10.4103/0366-6999.215339