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A Child with Arthrogryposis
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A Neonate with Micrognathia and Hypotonia
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Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
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Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
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Autosomal Dominant, Familial Spastic Paraplegia, Type I:Clinical and Genetic Analysis of a Large North American Family
Neurol 45:325-331, Fink,J.K.,et al, 1995
Hereditary Sensory and Autonomic Neuropathy with Cataracts, Mental Retardation, and Skin Lesions:Five Cases
Neurol 45:1405-1408, Heckmann,J.M.,et al, 1995
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Refsum Disease
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Friedreich Ataxia
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Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Multiple Endocrine Neoplasia, Type 2b:Phenotype Recognition; Neurological Features & Their Pathological Basis
Ann Neurol 6:302-314, Dyck,P.J.,et al, 1979
The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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Juvenile Diabetes Mellitus & Optic Atrophy
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