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01
601170
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MUSCULAR DYSTROPHY, CONGENITAL, WITH SEVERE CENTRAL NERVOUS SYSTEM ATROPHY AND ABSENCE OF LARGE MYELINATED FIBERS
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Disease
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Chemicals
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Biological Phenomena
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Anatomy
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Organisms
Disease
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MeSH term
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01
Arthrogryposis
関節拘縮
Muscular Dystrophies
筋ジストロフィー
Central Nervous System Diseases
中枢神経系疾患
Microcephaly
小頭症
Atrophy
萎縮
Chromosome Disorders
染色体疾患
Chromosome Aberrations
染色体異常
Syndrome
症候群
Chemicals
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MeSH term
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01
Biological Phenomena
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01
Fatal Outcome
致死的転帰
Evoked Potentials, Visual
視覚誘発電位
Consanguinity
血族
Chromosome Aberrations
染色体異常
Genes, Recessive
劣性遺伝子
Follow-Up Studies
追跡研究
Anatomy
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01
Muscle, Skeletal
骨格筋
Spinal Cord
脊髄
Brain
脳
Nerve Fibers, Myelinated
有髄神経線維
Peripheral Nerves
末梢神経
Myelin Sheath
髄鞘
Sural Nerve
腓腹神経
Organisms
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MeSH term
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01
Humans
ヒト
Database Center for Life Science