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Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

by Yareeda, Sireesha , Çavdarlı, Büşranur , Wilmshurst, Jo , Vengalil, Seena , Smuts, Izelle , Köken, Özlem Yayıcı , Sobreira, Claudia F. R. , Horvath, Rita , Polat, Ipek , Vandrovcova, Jana , Baskar, Dipti , Hanna, Michael G , Bearden, David , Naidu, Kireshnee , Rani, Nimita , Schoonen, Maryke , Schon, Katherine R , Vishnu, Venugopalan Y , Tomaselli, Pedro , Topoloğlu, Haluk , Raga, Sharika , Wilson, Lindsay A , Nalini, Atchayaram , Marques, Wilson , Meldau, Surita , Gao, Fei , Westhuizen, Francois H , Nandeesh, Bevinahalli N , Henning, Franclo , Chinnery, Patrick F , Yiş, Uluç , Heckmann, Jeannine , Thangaraj, Kumarasamy , Kapapa, Musambo , Kvalsund, Michelle

in Adult / Ataxia / Brazil / Brief Communication / Child development / DNA, Mitochondrial - genetics / Dysphagia / Exome Sequencing / Family medical history / Female / Genes / Humans / India / Kinases / Magnetic resonance imaging / Male / Middle Aged / Miscarriage / Mitochondrial Diseases - genetics / Mitochondrial DNA / Muscular dystrophy / Neuromuscular diseases / Neuromuscular Diseases - genetics / Pediatrics / Peripheral neuropathy / Polymorphism / South Africa / Spasticity / Turkey / Urine / Zambia

2025

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2025

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2025

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Journal Article

Mitochondrial DNA disorders in neuromuscular diseases in diverse populations

Yareeda, Sireesha,

Çavdarlı, Büşranur,

Wilmshurst, Jo,

Vengalil, Seena,

Smuts, Izelle,

Köken, Özlem Yayıcı,

Sobreira, Claudia F. R.,

Horvath, Rita,

Polat, Ipek,

Vandrovcova, Jana,

Baskar, Dipti,

Hanna, Michael G,

Bearden, David,

Naidu, Kireshnee,

Rani, Nimita,

Schoonen, Maryke,

Schon, Katherine R,

Vishnu, Venugopalan Y,

Tomaselli, Pedro,

Topoloğlu, Haluk,

Raga, Sharika,

Wilson, Lindsay A,

Nalini, Atchayaram,

Marques, Wilson,

Meldau, Surita,

Gao, Fei,

Westhuizen, Francois H,

Nandeesh, Bevinahalli N,

Henning, Franclo,

Chinnery, Patrick F,

Yiş, Uluç,

Heckmann, Jeannine,

Thangaraj, Kumarasamy,

Kapapa, Musambo,

Kvalsund, Michelle

2025

Overview

Neuromuscular features are common in mitochondrial DNA (mtDNA) disorders. The genetic architecture of mtDNA disorders in diverse populations is poorly understood. We analysed mtDNA variants from whole‐exome sequencing data in neuromuscular patients from South Africa, Brazil, India, Turkey and Zambia. In 998 individuals, there were two definite diagnoses, two possible diagnoses and eight secondary findings. Surprisingly, common pathogenic mtDNA variants found in people of European ancestry were very rare. Whole‐exome or ‐genome sequencing from undiagnosed patients with neuromuscular symptoms should be re‐analysed for mtDNA variants, but the landscape of pathogenic mtDNA variants differs around the world.

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Publisher

John Wiley & Sons, Inc,John Wiley and Sons Inc,Wiley

Subject

Adult

/ Ataxia

/ Brazil

/ Brief Communication

/ Child development

/ DNA, Mitochondrial - genetics

/ Dysphagia