TY - JOUR
T1 - Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother
AU - Casademont, Jordl
AU - Barrientos, Antonal
AU - Cardellach, Francese
AU - Rötlg, Agnes
AU - Grau, Josep Maria
AU - Montoya, Jullo
AU - Beltlran, Belen
AU - Cervantes, Francisco
AU - Rozman, Cirll
AU - Estlvill, Xavier
AU - Urbano-marque, Alvaro
AU - Numes, Virginia
N1 - Funding Information:
We thank Dr M.Lynch for his help with the manuscript. This work was supported by CICYT SAF 913/93, DGICYT PM91-0040, FIS 90-0616 and F1S 94/1563. Antoni Barrientos is depositary of a grant from the Ministerio de Educacin y Ciencia PF92 37289410 and Jordi Casademont was granted with a Short-term Fellowship by the 'Direcci General de Recerca; Generalitat de Catalunya'.
PY - 1994/11
Y1 - 1994/11
N2 - Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity of complexes I, III and IV. Mitochondrial DNA studies disclosed the presence of multiple deletions both in skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. We conclude that such patients suffer from a familial form of mitochondrial disease clinically resembling Pearson's syndrome, with a probable autosomal dominant inheritance.
AB - Two brothers presented with a clinical picture characterized by sideroblastic anemia, mild pancreatic insufficiency and progressive muscle weakness. The presence of an associated permanent basal lactic acidemia raised the suspicion of a mitochondrial disease. A muscle biopsy performed in both siblings proved the presence of a significant number of ragged-red fibers, and respiratory chain enzymatic determinations demonstrated a reduced activity of complexes I, III and IV. Mitochondrial DNA studies disclosed the presence of multiple deletions both in skeletal muscle and, to a lesser extent, in leukocytes. Similar, but not identical deletions were also present in the leukocytes and muscle from their mother. Deletions were flanked by short direct repeats. We conclude that such patients suffer from a familial form of mitochondrial disease clinically resembling Pearson's syndrome, with a probable autosomal dominant inheritance.
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U2 - 10.1093/hmg/3.11.1945
DO - 10.1093/hmg/3.11.1945
M3 - Article
C2 - 7874110
AN - SCOPUS:0028109484
VL - 3
SP - 1945
EP - 1949
JO - Human Molecular Genetics
JF - Human Molecular Genetics
SN - 0964-6906
IS - 11
ER -