Ontology highlight
ABSTRACT:
SUBMITTER: Indrieri A
PROVIDER: S-EPMC3487127 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Indrieri Alessia A van Rahden Vanessa Alexandra VA Tiranti Valeria V Morleo Manuela M Iaconis Daniela D Tammaro Roberta R D'Amato Ilaria I Conte Ivan I Maystadt Isabelle I Demuth Stephanie S Zvulunov Alex A Kutsche Kerstin K Zeviani Massimo M Franco Brunella B
American journal of human genetics 20121101 5
Microphthalmia with linear skin lesions (MLS) is an X-linked dominant male-lethal disorder associated with mutations in holocytochrome c-type synthase (HCCS), which encodes a crucial player of the mitochondrial respiratory chain (MRC). Unlike other mitochondrial diseases, MLS is characterized by a well-recognizable neurodevelopmental phenotype. Interestingly, not all clinically diagnosed MLS cases have mutations in HCCS, thus suggesting genetic heterogeneity for this disorder. Among the possible ...[more]