Pages that link to "Q831363"
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The following pages link to Bethlem myopathy (Q831363):
Displaying 50 items.
- COL6A1 (Q5145891) (← links)
- COL6A2 (Q17908052) (← links)
- COL6A3 (Q17908096) (← links)
- Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures (Q24318933) (← links)
- A TALEN-Exon Skipping Design for a Bethlem Myopathy Model in Zebrafish (Q27301818) (← links)
- Decreased expression of laminin beta 1 in chromosome 21-linked Bethlem myopathy (Q28139741) (← links)
- Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures (Q28142532) (← links)
- A heterozygous splice site mutation in COL6A1 leading to an in-frame deletion of the alpha1(VI) collagen chain in an italian family affected by bethlem myopathy (Q28144096) (← links)
- Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype (Q28203781) (← links)
- Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy (Q28206580) (← links)
- Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy (Q28267149) (← links)
- Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency (Q28270314) (← links)
- Genetic localization of Bethlem myopathy (Q28277264) (← links)
- Autosomal recessive Bethlem myopathy (Q30933456) (← links)
- The ABC's of limb-girdle muscular dystrophy: alpha-sarcoglycanopathy, Bethlem myopathy, calpainopathy and more (Q34373237) (← links)
- Nutritional status evaluation in patients affected by bethlem myopathy and ullrich congenital muscular dystrophy. (Q34529706) (← links)
- Melanocytes from Patients Affected by Ullrich Congenital Muscular Dystrophy and Bethlem Myopathy have Dysfunctional Mitochondria That Can be Rescued with Cyclophilin Inhibitors (Q34547398) (← links)
- Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain (Q35080325) (← links)
- Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing (Q35291260) (← links)
- A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy (Q37093375) (← links)
- Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis (Q37345612) (← links)
- Kinked collagen VI tetramers and reduced microfibril formation as a result of Bethlem myopathy and introduced triple helical glycine mutations (Q43798580) (← links)
- Bethlem myopathy (BETHLEM) and Ullrich scleroatonic muscular dystrophy: 100th ENMC international workshop, 23-24 November 2001, Naarden, The Netherlands (Q44239703) (← links)
- Early-onset benign autosomal dominant limb-girdle myopathy with contractures (Bethlem myopathy) in a Japanese family (Q46001781) (← links)
- Bethlem myopathy in a black creole pedigree. (Q46134571) (← links)
- Bethlem myopathy: pregnancy and delivery. (Q46934479) (← links)
- Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation (Q48621480) (← links)
- Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum (Q50223887) (← links)
- Bethlem myopathy (BETHLEM) 86th ENMC international workshop, 10-11 November 2000, Naarden, The Netherlands. (Q53318546) (← links)
- Bethlem myopathy in a Portuguese patient - case report. (Q54108945) (← links)
- [Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene]. (Q54306087) (← links)
- Body composition, muscle strength, and physical function of patients with Bethlem myopathy and Ullrich congenital muscular dystrophy. (Q54690359) (← links)
- GM23324 (Q54852995) (← links)
- GM23893 (Q54853424) (← links)
- GM24234 (Q54853647) (← links)
- GM24343 (Q54853730) (← links)
- GM24406 (Q54853753) (← links)
- Bethlem myopathy 2 (Q56013596) (← links)
- Molecular consequences of dominant Bethlem myopathy collagen VI mutations (Q57394300) (← links)
- Muscle MRI findings in a three-generation family affected by Bethlem myopathy (Q57562608) (← links)
- Cardiac and Pulmonary Investigations in Bethlem Myopathy (Q57588322) (← links)
- Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy (Q57588355) (← links)
- Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37 (Q57624130) (← links)
- Novel COL6A1 splicing mutation in a family affected by mild Bethlem myopathy (Q57640053) (← links)
- Bethlem myopathy: Early-onset benign autosomal dominant myopathy with contractures. Description of two new families (Q57640173) (← links)
- Muscle MRI findings in a three-generation family affected by Bethlem myopathy (Q61415119) (← links)
- COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy (Q61480567) (← links)
- Muscle MRI in Ullrich congenital muscular dystrophy and Bethlem myopathy (Q61480569) (← links)
- Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution (Q61797281) (← links)
- COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report (Q64099330) (← links)