We present the family of two girls affected with alternating hemiplegia of childhood who were born to the same mother and different fathers. Previous reports suggested mitochondrial dysfunction as an Etiologic mechanism for this disorder. Muscle biopsy, including a measurement of the respiratory chain enzymes, performed in one of the sisters showed no mitochondrial abnormalities. The mode of inheritance is not certain, but an autosomal-dominant gene is most likely.
机构:
HOP NECKER ENFANTS MALAD, DEPT PEDIAT, NEUROL UNIT, F-75730 PARIS 15, FRANCEHOP NECKER ENFANTS MALAD, DEPT PEDIAT, NEUROL UNIT, F-75730 PARIS 15, FRANCE
BOURGEOIS, M
AICARDI, J
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HOP NECKER ENFANTS MALAD, DEPT PEDIAT, NEUROL UNIT, F-75730 PARIS 15, FRANCEHOP NECKER ENFANTS MALAD, DEPT PEDIAT, NEUROL UNIT, F-75730 PARIS 15, FRANCE
AICARDI, J
GOUTIERES, F
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HOP NECKER ENFANTS MALAD, DEPT PEDIAT, NEUROL UNIT, F-75730 PARIS 15, FRANCEHOP NECKER ENFANTS MALAD, DEPT PEDIAT, NEUROL UNIT, F-75730 PARIS 15, FRANCE
GOUTIERES, F
JOURNAL OF PEDIATRICS,
1993,
122
(05):
: 673
-
679
机构:
VIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USAVIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USA
YAO, SC
WHITE, JM
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VIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USAVIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USA
WHITE, JM
VINSON, WE
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机构:
VIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USAVIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USA
VINSON, WE
KLIEWER, RH
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VIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USAVIRGINIA POLYTECH INST & STATE UNIV, DEPT DAIRY SCI, BLACKSBURG, VA 24061 USA