Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
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Congenital Muscular Dystrophy
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A 19-Month Old Girl with Infantile-Onset Myopathy and White Matter Changes
Neurol 102:e209258, Lail,G.,et al, 2024
A 24-Year-Old Man with Gait Impairment, Hearing Loss, and Recurrent Fever
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Spinal Muscular Atrophy
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Duchenne Muscular Dystrophy
BMJ 368:L7012, Fox, H.,et al, 2020
Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement
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Neurodegeneration with Brain Iron Accumulation
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A 13-year-old boy with Chronic Ataxia and Developmental Delay
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A Woman with Intellectual Disability, Amenorrhoea, Seizures, and Balance Problems
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Clinicopath Conf, Infantile Krabbe Disease
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MRI in Methylmalonic Acidemia
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Case 35-2006: A Newborn Boy with Hypotonia
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Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
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Cystic Periventricular Leukomalacia and Type of Cerebral Palsy in Preterm Infants
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Neurological Deterioration in Young Adults with Phenylketonuria
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Infantile CNS Spongy Degeneration-14 Cases:Clinical Update
Neurol 40:1876-1882, Gascon,G.G.,et al, 1990
Alexander's Disease, A Disease of Astrocytes
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Recognising & Preventing Duchenne Muscular Dystrophy
BMJ 287:1083-1084, Firth,M.A.,et al, 1983
Diagnostic Delay in Duchenne's Muscular Dystrophy
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