Axonal neuropathy with unusual pattern of amyotrophy and alacrima associated with a novel AAAS mutation p.Leu430Phe

The triple A syndrome is caused by autosomal recessively inherited mutations in the AAAS gene and is characterized by achalasia, alacrima and adrenal insufficiency as well as progressive neurological impairment. We report on a 14-year-old girl with slowly progressive axonal motor neuropathy with con...

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Veröffentlicht in:	European journal of human genetics : EJHG 2008-12, Vol.16 (12), p.1499-1506
Hauptverfasser:	Koehler, Katrin, Brockmann, Knut, Krumbholz, Manuela, Kind, Barbara, Bönnemann, Carsten, Gärtner, Jutta, Huebner, Angela
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Substitution - genetics Amino Acid Substitution - physiology Bioinformatics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cytogenetics Diseases of striated muscles. Neuromuscular diseases DNA Mutational Analysis Female Fundamental and applied biological sciences. Psychology Gene Expression General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution HeLa Cells Human Genetics Humans Lacrimal Apparatus Diseases - complications Lacrimal Apparatus Diseases - genetics Leucine - genetics Medical genetics Medical sciences Molecular and cellular biology Muscular Atrophy - complications Muscular Atrophy - genetics Musculoskeletal Abnormalities - complications Musculoskeletal Abnormalities - genetics Nerve Tissue Proteins - genetics Neurology Nuclear Pore Complex Proteins - genetics Peripheral Nervous System Diseases - complications Peripheral Nervous System Diseases - genetics Phenylalanine - genetics Point Mutation Syndrome Transfection
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