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Gene, ISSN 0378-1119, 10/2019, Volume 716, p. 144036
Nebulin is a 770 kDa protein that is localized along the thin filaments of skeletal muscles in vertebrates. It is also present in the striated muscles of , an... 
Heart | Invertebrate | Nrap | Lasp | Nebulin family | Nebulette | Muscle | Nebulin | Ciona | Giant protein | PROTEIN | IDENTIFICATION | ROLES | AMPHIOXUS NEBULIN | GENETICS & HEREDITY
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 02/2019, Volume 29, Issue 2, pp. 97 - 107
We report the first family with a dominantly inherited mutation of the nebulin gene ( ). This ∼100 kb in-frame deletion encompasses exons 14–89, causing distal... 
Distal myopathy | Nemaline myopathy-CGH Array | Dominant nemaline myopathy | Nebulin | Cap myopathy | MYOSIN | RODS | IDENTIFICATION | NEUROSCIENCES | CLINICAL NEUROLOGY | ALPHA-ACTIN GENE | DISEASE | CONGENITAL MYOPATHY | MUTATIONS | Genetic research | Cytogenetics | RNA | Gene mutations | Genes
Journal Article
Brain, ISSN 0006-8950, 6/2007, Volume 130, Issue 6, pp. 1465 - 1476
We describe a novel, recessively inherited distal myopathy caused by homozygous missense mutations in the nebulin gene (NEB), in which other combinations of... 
Distal myopathy | Nebulin gene | Mutation | Recessive | Missense | ACTIN | nebulin gene | CHROMOSOME 2Q | PHENOTYPE | IDENTIFICATION | distal myopathy | NEUROSCIENCES | CLINICAL NEUROLOGY | mutation | SKELETAL-MUSCLE | FILAMENTS | TIBIAL MUSCULAR-DYSTROPHY | RECESSIVE NEMALINE MYOPATHY | missense | ASSIGNMENT | LINKAGE | recessive | Humans | Middle Aged | Male | Fingers - physiopathology | Mutation, Missense | Muscle Weakness - genetics | Polymerase Chain Reaction - methods | Polymorphism, Single-Stranded Conformational | Distal Myopathies - physiopathology | Muscle Fibers, Skeletal - ultrastructure | Muscle Weakness - pathology | Aged, 80 and over | Adult | Female | Distal Myopathies - pathology | Muscle, Skeletal - ultrastructure | Microscopy, Electron | Muscle Proteins - genetics | Distal Myopathies - genetics | Leg - pathology | Biopsy | Pedigree | Muscle, Skeletal - physiopathology | Adolescent | Aged | Muscle Weakness - physiopathology | Neurologi | Basic Medicine | Medical and Health Sciences | Internal medicine | Medicin och hälsovetenskap | Cell and Molecular Biology | Patologi | Klinisk medicin | MEDICINE | Dermatology and venerology,clinical genetics, internal medicine | Morphology, cell biology, pathology | Clinical Medicine | Neurology | Pathology | Morfologi, cellbiologi, patologi | MEDICIN | Medicinska och farmaceutiska grundvetenskaper | Invärtesmedicin | Dermatologi och venerologi, klinisk genetik, invärtesmedicin | Cell- och molekylärbiologi
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