A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
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Mitochondrial CardiomyopathiesGastrointestinal manifestations of mitochondrial disorders: a systematic review.Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b gene.Complex II phosphorylation is triggered by unbalanced redox homeostasis in cells lacking complex III.deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles
P2860
A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.
description
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name
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@en
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@nl
type
label
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@en
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@nl
prefLabel
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@en
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@nl
P2093
P2860
P50
P356
P1433
P1476
A novel in-frame 18-bp microde ...... rominent exercise intolerance.
@en
P2093
Anna Ghelli
Antonio Torroni
Concetta Valentina Tropeano
Luca Ferretti
Michele Carbonelli
Piero Barboni
Valeria Carossa
Vera De Nardo
P2860
P304
P356
10.1002/HUMU.22596
P50
P577
2014-06-28T00:00:00Z