Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene-Reference-Cited by-同舟云学术

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene

Published:2019-07 Issue: Volume:47 Page:24-29
ISSN:1567-7249
Container-title:Mitochondrion
language:en
Short-container-title:Mitochondrion

Author:

Marchet Silvia,Invernizzi Federica^ORCID,Blasevich Flavia,Bruno Valentina,Dusi Sabrina,Venco Paola,Fiorillo Chiara,Baranello Giovanni^ORCID,Pallotti Francesco,Lamantea Eleonora,Mora Marina,Tiranti Valeria^ORCID,Lamperti Costanza^ORCID

Funder

Pierfranco and Luisa Mariani Foundation

Italian Association Mitocon

Publisher

Elsevier BV

Subject

Cell Biology,Molecular Biology,Molecular Medicine

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2. Skin biopsy findings in megaconial congenital muscular dystrophy with psoriasiform lesions due to variants in CHKB;Journal of the European Academy of Dermatology and Venereology;2023-11-10

3. Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients;Neuromuscular Disorders;2023-07

4. Large heterozygous deletion and uniparental disomy masquerading as homozygosity inCHKBgene;Molecular Genetics & Genomic Medicine;2023-03-10

5. Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review;Skeletal Muscle;2022-09-29