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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0002486) | Myotonia | 29 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(OMIM) | Muscle weakness. Selective muscle wasting. | 1 / 7739 | ||||
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(OMIM) | No clinical myotonia. | 1 / 7739 | ||||
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(OMIM) | Electrical myotonia. Muscle biopsy shows vacuoles containing hematoxylinophilic granules, and in 30% of type I fibers, myofibrillar elements demarcate the sarcoplasm into lobules. | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |