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bn:01617536n
Noun Concept
NL
No term available
EN
Distal spinal muscular atrophy type 1, also known as spinal muscular atrophy with respiratory distress type 1, is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles. Wikipedia
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Sources
IS A
zeldzame ziekte
spinale musculaire atrofie
EN
Distal hereditary motor neuronopathies
EN
autosomal recessive disease
GENETIC ASSOCIATION
IGHMBP2
HEALTH SPECIALTY
neurologie

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