Handbook of Clinical Neurology, Volume 2; Volumes 7-8; Volume 17; Volume 24; Volumes 30-32; Volume 34; Volume 43; Volume 65; Volume 80; Volume 84; Volume 93; Volume 1976
P. J. Vinken, Ntinos Cleovoulou Myrianthopoulos, G. W. Bruyn, Harold L. Klawans
North-Holland Publishing Company, 1977 - Blood-vessels - 632 pages
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abnormalities absent activity adult affected anomalies appears Arch associated atrophy authors autosomal dominant autosomal recessive biopsy birth bones brain brothers cause cells changes characteristic child chromosome cleft clinical common condition congenital consistent counseling creatine deafness defect deficiency deformity described diagnosis disease disorder drome dysplasia dystrophy early et al evidence examination facial females findings frequently gene genetic growth hands hypoplasia increased individuals infants inheritance involvement known later lesions less levels limb limited loss majority males malformations manifestations mental retardation mild months muscle muscular myopathy nerve Neurol neurological neuromuscular normal noted observed occur onset palate parents patients pattern possible present probably progressive rare relatively reported result revealed risk seen serum severe short showed siblings similar skeletal skin specific studies suggested symptoms syndrome tion treatment usually variable weakness X-linked