Tīmeklis2024. gada 7. apr. · RNA analysis of intronic variants in the LAMA2 gene detected by whole genome sequencing confirms a rare dual diagnosis of incontinentia pigmenti with limb-girdle muscular dystrophy Camerun Washington, Elliot S. Stolerman, Jessica A. Cooley-Coleman, Julie R. Jones, Xiangwen Chen-Deutsch First published: 07 April … Tīmeklis2024. gada 12. aug. · A muscular dystrophy caused by mutations in the LAMA2gene (LAMA2-related muscular dystrophy, LAMA2-MD) has a similar clinical phenotype, with either a severe, early-onset due to complete Laminin subunit α2 deficiency (merosin-deficient congenital muscular dystrophy type 1A (MDC1A)), or a mild, childhood- or …
Gene: LAMA2 - BL04374
Tīmeklis2024. gada 7. apr. · This experiment showed that both patient and maternal LAMA2 gene transcripts demonstrated skipping of exon 58 (Figure 1), providing inheritance … TīmeklisAs of December 2024, the database contains 486 unique LAMA2 variants (309 disease-associated), obtained from direct submissions and literature reports. … can you refund a playstation game
Novel LAMA2 variants identified in a patient with white matter
Tīmeklis2024. gada 5. aug. · LAMA2-RDs are classically characterized by both central and peripheral nervous system involvement with abnormal appearing white matter (WM) on brain MRI and dystrophic appearing muscle on muscle biopsy as well as creatine kinase (CK) levels commonly elevated to >1,000 IU/L. TīmeklisThe laminin-α2 subunit, encoded by the LAMA2 gene, is expressed in skeletal muscle, Schwann cells of the peripheral nerve and astrocytes and pericytes of the capillaries in the brain. Mutations in LAMA2 cause the most common type of congenital muscular dystrophies, called LAMA2 MD or MDC1A. Tīmeklis2024. gada 19. jūl. · LAMA2 -related muscular dystrophy is an autosomal recessive disorder caused by pathogenic variants in LAMA2 gene (OMIM 156,225). LAMA2 is … can you refund a sub on twitch