Early onset distal muscular dystrophy

Brain and Development - Tập 17 - Trang 206-209 - 1995
Hirotoshi Kinoshita1, Kenji Sugai1, Yu-ichi Goto1,2, Ikuya Nonaka1,2
1Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry (NCNP), Kodaira, Tokyo 187, Japan
2National Institute of Neuroscience, NCNP, Kodaira, Tokyo Japan

Tài liệu tham khảo

Welander, 1951, Myopathia distalis tarda hereditaria, Acta Med Scand, 141, 1 Markesbery, 1974, Late onset hereditary distal myopathy, Neurology, 23, 127, 10.1212/WNL.24.2.127 Markesbery, 1977, Distal myopathy: electron microscopic and histochemical studies, Neurology, 27, 727, 10.1212/WNL.27.8.727 Miyoshi, 1986, Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families including an autopsied case, Brain, 109, 31, 10.1093/brain/109.1.31 Nonaka, 1981, Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation, J Neurol Sci, 51, 141, 10.1016/0022-510X(81)90067-8 Nonaka, 1985, Autosomal recessive distal muscular dystrophy: a comparative study with distal myopathy with rimmed vacuole formation, Ann Neurol, 17, 51, 10.1002/ana.410170113 Medical Research Council, 1986 Udd, 1993, Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene?, J Med Genet, 29, 383, 10.1136/jmg.29.6.383 Udd, 1992, Non-vacuolar myopathy in a large family with both late adult onset distal myopathy and severe proximal muscular dystrophy, J Neurol Sci, 113, 214, 10.1016/0022-510X(92)90249-K Udd, 1993, Tibial muscular dystrophy: late adult-onset distal myopathy in 66 Finnish patients, Arch Neurol, 50, 604, 10.1001/archneur.1993.00540060044015 Yamanouchi, 1994, Autosomal recessive distal muscular dystrophy: normal expression of dystrophin, utrophin and dystrophin-associated proteins in muscle fibers, J Neurol Sci, 126, 70, 10.1016/0022-510X(94)90096-5 Mizusawa, 1987, Distribution of skeletal muscle involvement in autosomal recessive distal muscular dystrophy: a clinical and computed tomographic study (in Japanese), Rinsho Shinkeigaku (Tokyo), 27, 177 Ronen, 1986, Hereditary motor sensory neuropathy type I presenting as scapuloperoneal atrophy (Davidenkow syndrome). Electrophysiological and pathological studies, Can J Neurol Sci, 13, 264, 10.1017/S0317167100036404