autosomaal recessieve 'limb-girdle'-spierdystrofie type 2J (aandoening)
autosomaal recessieve 'limb-girdle'-spierdystrofie type 2J
Autosomal recessive limb girdle muscular dystrophy type 2J
Limb-girdle muscular dystrophy 2J titin gene mutation
A form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset. Caused by homozygous mutation in the titin gene (TTN).
Associated morphologydystrofie
Finding sitestructuur van skeletspier
Pathological processproces van pathologische ontwikkeling
Clinical courseprogressief
referentieset met complexe 'mapping' naar ICD-10
AdviceALWAYS G71.0
CorrelationSNOMED CT source code to target map code correlation not specified