Hypertrichosis in presymptomatic mitochondrial disease

Journal of Inherited Metabolic Disease

Volumn 36, Issue 6, 2013, Pages 1081-1082

  Baertling, Fabian ^a   Mayatepek, Ertan ^a   Distelmaier, Felix ^a  

^a UNIVERSITY HOSPITAL DÜSSELDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ARM; ARTICLE; ASYMPTOMATIC DISEASE; BACK; CASE REPORT; CHILD; CLINICAL EXAMINATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; FOREHEAD; GENE; GENE MUTATION; HUMAN; HYPERTRICHOSIS; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; SURF1 GENE;

ASYMPTOMATIC DISEASES; HUMANS; HYPERTRICHOSIS; INFANT; LEIGH DISEASE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MUTATION;

EID: 84888205585     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9593-3     Document Type: Article

References (3)

1. Bodemer C, Rotig A, Rustin P et al (1999) Hair and skin disorders as signs of mitochondrial disease. Pediatrics 103(2):428-433
2. Finsterer J (2008) Leigh and leigh-like syndrome in children and adults. Pediatr Neurol 39(4):223-235
3. Ostergaard E, Bradinova I, Ravn SH et al (2005) Hypertrichosis in patients with SURF1 mutations. Am J Med Genet A 138(4):384-388