Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4

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Prevalence (%) of clinical parameters based on data from 1 references describing 5 individuals

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Elevated creatine kinase (CK) levels circulatory 100 % 17036286 2024-05-14
Muscle hypertrophy skeletal 80 % 17036286 2024-05-14
Contracture nervous 80 % 17036286 2024-05-14
Muscle weakness skeletal 80 % 17036286 2024-05-14
non-walking multi 60 % 17036286 2024-05-14
Hip dysplasia skeletal 20 % 17036286 2024-05-14
Mental retardation nervous 20 % 17036286 2024-05-14

List of references:

Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness.
Terumi Murakami, Yukiko K Hayashi, Satoru Noguchi, Megumu Ogawa, Ikuya Nonaka, Yuzo Tanabe, Mieko Ogino, Fumio Takada, Makoto Eriguchi, Norihiko Kotooka, Kevin P Campbell, Makiko Osawa, Ichizo Nishino,

Annals of neurology - Nov 2006