Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6. |
|
Cerebellar dysfunction in a family harboring the PSEN1 mutation co-segregating with a cathepsin D variant p.A58V. |
|
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease). |
|
Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia |
|
Isolated X-linked hypertrophic cardiomyopathy caused by a novel mutation of the four-and-a-half LIM domain 1 gene. |
|
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene. |
|
Mutations in ANTXR1 cause GAPO syndrome. |
|
Mutations in DNAJC5, encoding cysteine-string protein alpha, cause autosomal-dominant adult-onset neuronal ceroid lipofuscinosis |
|
Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness. |
|
Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans |
|
Rare variants in known and novel candidate genes predisposing to statin-associated myopathy. |
|
Spinal muscular atrophy caused by a novel Alu-mediated deletion of exons 2a-5 in SMN1 undetectable with routine genetic testing |
|
Teenage-onset progressive myoclonic epilepsy due to a familial C9orf72 repeat expansion. |
|
Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature |
|
Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients |
|
Whole-exome sequencing identifies rare pathogenic variants in new predisposition genes for familial colorectal cancer |
|