Pages that link to "Q112412"
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The following pages link to congenital myopathy (Q112412):
Displaying 50 items.
- centronuclear myopathy (Q782958) (← links)
- fingerprint body myopathy (Q1417120) (← links)
- multiminicore myopathy (Q1952336) (← links)
- congenital fiber-type disproportion (Q1956696) (← links)
- HACD1 (Q18033908) (← links)
- (Q21502125) (redirect page) (← links)
- (Q21505527) (redirect page) (← links)
- Compton-North congenital myopathy (Q21505528) (← links)
- cylindrical spirals myopathy (Q21505531) (← links)
- Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores (Q24293780) (← links)
- Mutations in the integrin alpha7 gene cause congenital myopathy (Q24317420) (← links)
- Comparison of clinical characteristics between congenital fiber type disproportion myopathy and congenital myopathy with type 1 fiber predominance (Q24654197) (← links)
- Missense mutations of ACTA1 cause dominant congenital myopathy with cores (Q24676050) (← links)
- NEMALINE MYOPATHY. A NEW CONGENITAL MYOPATHY (Q28156067) (← links)
- Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2) (Q28248133) (← links)
- Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy (Q28293427) (← links)
- Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy (Q28587879) (← links)
- Congenital myopathy results from misregulation of a muscle Ca2+ channel by mutant Stac3. (Q30008804) (← links)
- A novel TPM2 gene splice-site mutation causes severe congenital myopathy with arthrogryposis and dysmorphic features. (Q33563968) (← links)
- Cardiac ankyrin repeat protein is preferentially induced in atrophic myofibers of congenital myopathy and spinal muscular atrophy (Q34265872) (← links)
- Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation (Q34285414) (← links)
- Congenital fiber type disproportion: a rare type of congenital myopathy: a report of four cases (Q34335247) (← links)
- Duane anomaly, congenital myopathy and severe scoliosis in sibs: new AR syndrome? (Q34543751) (← links)
- Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation (Q35030979) (← links)
- Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores (Q35904556) (← links)
- Congenital myopathy caused by a novel missense mutation in the CFL2 gene. (Q36040738) (← links)
- Nocturnal respiratory failure in a child with congenital myopathy - management using average volume-assured pressure support (AVAPS) (Q36064726) (← links)
- Laminin-111 restores regenerative capacity in a mouse model for alpha7 integrin congenital myopathy (Q37073808) (← links)
- Benign congenital myopathy with myasthenic features (Q37149372) (← links)
- Congenital myopathy with oculo-facial abnormalities (Marden-Walker syndrome). (Q37262674) (← links)
- Congenital myopathy is caused by mutation of HACD1. (Q37346978) (← links)
- Ca2+ dysregulation in Ryr1(I4895T/wt) mice causes congenital myopathy with progressive formation of minicores, cores, and nemaline rods (Q37458493) (← links)
- Frequency and Phenotype of Myotubular Myopathy Amongst Danish Patients with Congenital Myopathy Older than 5 Years (Q37610554) (← links)
- Congenital myopathy with cap-like structures and nemaline rods: case report and literature review. (Q38235616) (← links)
- A novel ACTA1 mutation resulting in a severe congenital myopathy with nemaline bodies, intranuclear rods and type I fibre predominance (Q39654455) (← links)
- Slowly progressive congenital myopathy with cytoplasmic bodies--report of two cases and a review of the literature (Q40134390) (← links)
- An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor (Q40844314) (← links)
- Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations. (Q41588609) (← links)
- A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing (Q41729884) (← links)
- Congenital myopathy with progressive external ophthalmoplegia (Q41965998) (← links)
- A case of congenital myopathy masquerading as paroxysmal dyskinesia (Q42114414) (← links)
- Novel congenital myopathy locus identified in Native American Indians at 12q13.13-14.1. (Q42599761) (← links)
- Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization (Q42681353) (← links)
- Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations. (Q42916481) (← links)
- Congenital myopathy with restricted anteflexion of the cervical and lumbar spine. (Preliminary communication) (Q43695042) (← links)
- Congenital myopathy with central cores and fingerprint bodies in association with malignant hyperthermia susceptibility (Q43722116) (← links)
- Tubular aggregate congenital myopathy associated with neuromuscular block (Q43909991) (← links)
- Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. (Q44075701) (← links)
- Distal and congenital myopathy with hypertrophy of the calves. Presence of mitochondrial anomalies (Q44081905) (← links)
- Congenital myopathy with selective hypotrophy of type I fibers (Q44106180) (← links)