Spinal muscular atrophy and mitochondrial DNA depletion. Response to Berber et al. (2003) Acta Neuropathol 105:245-251

Acta Neuropathologica

Volumn 105, Issue 6, 2003, Pages 621-622

  Mancuso, M ^a   Filosto, M ^a   Hirano, M ^a   DiMauro, S ^a  

^a New York Presbyterian Columbia University Medical Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; CYTIDINE; GUANINE; ISOLEUCINE; LACTIC ACID; METHIONINE; MITOCHONDRIAL DNA; SUCCINATE DEHYDROGENASE; BETA GALACTOSIDASE; CYSTEINE; GLYCINE; LACTASE; THYMIDINE KINASE; THYMIDINE KINASE 2;

AMINO ACID SUBSTITUTION; CASE REPORT; CHILD; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DIFFERENTIAL DIAGNOSIS; ELECTROMYOGRAM; ENZYME ACTIVITY; GAIT DISORDER; GENE MUTATION; GENETIC CODE; HISTOCHEMISTRY; HOMOZYGOSITY; HUMAN; HYPOREFLEXIA; LACTATE BLOOD LEVEL; LETTER; MALE; MUSCLE BIOPSY; MUSCLE HYPOTONIA; NERVE CONDUCTION; NEUROPATHOLOGY; NUCLEIC ACID BASE SUBSTITUTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; SPINAL MUSCULAR ATROPHY; BLOOD; ELECTROMYOGRAPHY; GENETICS; METABOLISM; METHODOLOGY; MUSCLE MITOCHONDRION; MUTATION; NOTE; SKELETAL MUSCLE;

BETA-GALACTOSIDASE; CHILD; CREATINE KINASE; CYSTEINE; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; ELECTROMYOGRAPHY; GLYCINE; HUMANS; LACTASE; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; MUSCULAR ATROPHY, SPINAL; MUTATION; SUCCINATE DEHYDROGENASE; THYMIDINE KINASE;

EID: 0038112240     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-003-0699-9     Document Type: Letter

References (9)

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2. Berger A, Mayr JA, Meierhofer D, Fotschl U, Bittner R, Budka H, Grethen C, Huemer M, Kofler B, Sperl W (2003) Severe depletion of mitochondrial DNA in spinal muscular atrophy. Acta Neuropathol 105:245-251
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