Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay
Combined complex deficiency

 Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Cataract nervous 100 % 19409522 2011-10-19
Hypotonia nervous 100 % 19409522 2011-10-11
Hearing loss nervous 100 % 19409522 2011-10-11
Developmental delay multi 100 % 19409522 2011-10-11
Ptosis nervous 66 % 19409522 2011-10-11
Lactate accumulation circulatory 66 % 19409522 2011-10-11
Areflexia nervous 33 % 19409522 2011-10-11
Nystagmus nervous 33 % 19409522 2011-10-11
Increased blood CK circulatory 33 % 19409522 2011-10-11



List of references:


The mitochondrial disulfide relay system protein GFER is mutated in autosomal-recessive myopathy with cataract and combined respiratory-chain deficiency.
Alessio Di Fonzo, Dario Ronchi, Tiziana Lodi, Elisa Fassone, Marco Tigano, Costanza Lamperti, Stefania Corti, Andreina Bordoni, Francesco Fortunato, Monica Nizzardo, Laura Napoli, Chiara Donadoni, Sabrina Salani, Francesca Saladino, Maurizio Moggio, Nereo Bresolin, Iliana Ferrero, Giacomo P Comi,



American journal of human genetics - May 2009