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GENATLAS PHENOTYPE

last update : 03-11-2020

Symbol	LGMD2S
Location	4q35.1
Name	muscular dystrophy, limb-girdle, type 2S
Other name(s)	Muscular dystrophy, limb-girdle, autosomal recessive 18
Corresponding gene	TRAPPC11
Other symbol(s)	LGMDR18
Main clinical features	childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging serum creatine kinase is increased associated with hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay, mental retardation in any cases achalasia, alacrima, neurological and muscular phenotype mimicking triple A syndrome (PMID: 27707803)) myopathy, intellectual disability, hyperkinetic movements, and ataxia also cases with dystroglycanopathy (PMID: 29855340))
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
	mental retardation
Type	disease

Remark(s)

. mutations lead to a range of molecular defects including altered TRAPP complex composition, impaired Golgi morphology, and altered protein transport along the secretory pathway (PMID: 23830518))