Clinical Reasoning: Siblings with Progressive Weakness, Hypotonia, Nystagmus, and Hearing Loss
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The Synd of Autosomal Recessive Pontocerbellar Hypoplasia, Microcephaly, & Extrapyr Dyskinesia (Pontocereb Hypopl Type 2)
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The Spectrum of Mild X-Linked Recessive Muscular Dystrophy
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A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
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Disability in adults with arthrogryposis is severe, partly invisible, and varies by genotype
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Clinicopath Conf
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Cockayne Syndrome: Review of 140 Cases
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Fucosidosis Revisited:A Review of 77 Patients
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Congenital Muscular Dystrophy
J Pediatr 115:214-221, Leyten,Q.H.,et al, 1989
Early-Onset Benign Autosomal Dominant Limb-Girdle with Contractures (Bethlem Myopathy)
Neurol 38:573-580, Mohire,M.D.,et al, 1988
Emery-Dreifuss Muscular Dystrophy:Disease Spectrum and Differential Diagnosis
Neuropediatrics 19:62-71, Voit,T.,et al, 1988
Central Core Disease, Clinical Features in 13 Patients
Medicine 66:389-396, Shuaid,A.,et al, 1987
Congenital Myotonic Dystrophy
Arch Neurol 37:693-696, Argov,Z.,et al, 1980
Emery-Dreifuss Muscular Dystrophy
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Familial Neuromuscular Disease with Type 1 Fiber Hypoplasia, Tubular Aggregates, Cardiomyopathy, & Myasthenic Features
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Parkinson's Disease
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