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Complex I assembly factor TMEM126B mutations result in muscle weakness and isolated complex I deficiency.

Document Type

Article

Author

Sánchez-Caballero, Laura; Ruzzenente, Benedetta; Bianchi, Lucas; Assouline, Zahra; Metodiev, Metodi D.; Rio, Marlène; Funalot, Benoît; van den Brand M, Mariël A.M.; Guerrero–Castillo, Sergio; Molenaar, Joery; Koolen, David; Brandt, Ulrich; Rodenburg, Richard J.; Nijtmans, Leo G.; Rötig, Agnès

Source

BBA - Bioenergetics. Aug2016 Supplement, Vol. 1857, pe31-e32. 1p.

Subject

*MUSCLE weakness
*NEUROMUSCULAR diseases
*EXOMES
*PHENOTYPES
*PLETHORA (Pathology)

Language

ISSN

0005-2728

Online Access

Full Text (ScienceDirect) Full Text (ScienceDirect O/A) Web of Science JCR 저널정보 Scopus Find it@PNU

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