Muscle pathology of myotonia congenita
We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnos...
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| Veröffentlicht in: | Journal of the neurological sciences 1976-08, Vol.28 (4), p.449-457 |
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| container_title | Journal of the neurological sciences |
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| creator | Crews, Jerry Kaiser, Kenneth K. Brooke, Michael H. |
| description | We have investigated the muscle biopsies of 8 patients with myotonia congenita. There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic. Histochemical studies of fiber subtypes demonstrated a complete absence of Type 2B muscle fibers in all of our patients regardless of the type of inheritance. This is the first report of an entity in which there is a consistent absence of a muscle fiber type, and some speculation has been made as to the possible causes. |
| doi_str_mv | 10.1016/0022-510X(76)90116-7 |
| format | Article |
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There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic. Histochemical studies of fiber subtypes demonstrated a complete absence of Type 2B muscle fibers in all of our patients regardless of the type of inheritance. 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There were 2 families with autosomal recessive inheritance (5 cases), 1 with autosomal dominant inheritance, and 2 sporadic cases. Mild abnormalities were seen with routine pathological preparations which were nondiagnostic. Histochemical studies of fiber subtypes demonstrated a complete absence of Type 2B muscle fibers in all of our patients regardless of the type of inheritance. 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| ispartof | Journal of the neurological sciences, 1976-08, Vol.28 (4), p.449-457 |
| issn | 0022-510X 1878-5883 |
| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals Complete |
| subjects | Adenosine Triphosphatases - analysis Adolescent Adult Female Humans Male Muscles - enzymology Muscles - pathology Myotonia Congenita - genetics Myotonia Congenita - pathology |
| title | Muscle pathology of myotonia congenita |
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