✦ LIBER ✦

Hypothyroidism could be the only manifestation of mitochondrial T8993C mutation in Leigh syndrome

✍ Scribed by Tomoum, Hoda; Elsayed, Solaf M.; Berry-Kravis, Elizabeth

Book ID: 122961770
Publisher: Springer (Biomed Central Ltd.)
Year: 2013
Tongue: English
Weight: 388 KB
Volume: 14
Category: Article
ISSN: 1110-8630
DOI: 10.1016/j.ejmhg.2012.10.005

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypic Differences Between T → C and

Phenotypic Differences Between T → C and T → G Mutations at nt 8993 of Mitochondrial DNA in Leigh Syndrome

✍ Tatsuya Fujii MD; PhD; Haruo Hattori MD; PhD; Yoshihisa Higuchi MD; Masahiro Tsu 📂 Article 📅 1998 🏛 Elsevier Science 🌐 English ⚖ 39 KB

A previously undescribed leukodystrophy

A previously undescribed leukodystrophy in Leigh syndrome associated with T9176C mutation of the mitochondrial ATPase 6 gene

✍ Po-Cheng Hung; Huei-Shyong Wang 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 191 KB

We report two male Taiwanese siblings in whom the T→C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old. Brain MRI showed lesions over diffus

Fulminant Leigh syndrome and sudden unex

Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

✍ C. Dionisi-Vici; S. Seneca; M. Zeviani; G. Fariello; M. Rimoldi; E. Bertini; L. 📂 Article 📅 1998 🏛 Springer 🌐 English ⚖ 170 KB

Novel Mitochondrial C15620A Variant may

Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome

✍ Ji, Kunqian; Zheng, Jinfan; Sun, Baoying; Liu, Fuchen; Shan, Jingli; Li, Duoling 📂 Article 📅 2013 🏛 Humana Press Inc 🌐 English ⚖ 517 KB

A novel mutation of the NDUFS7 gene lead

A novel mutation of the NDUFS7 gene leads to activation of a cryptic exon and impaired assembly of mitochondrial complex I in a patient with Leigh syndrome

✍ Sophie Lebon; Limor Minai; Dominique Chretien; Johanna Corcos; Valérie Serre; No 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 197 KB