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117000.1
Home
Subject Details
Country
Lebanon
HPO Terms
Hypotonia; Delayed gross motor development; Lactic acidosis; Muscular dystrophy; Myofibrillar myopathy; Abnormal circulating creatine kinase concentration
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Sex
Male
Subject Variants
Variant Name
Allele Count
Allele Frequency
Associated Disease
Associated Gene
NM_000540.2:c.8758C>T
1
Central Core Disease of Muscle
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References
Nair et al. 2018
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