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112 Possible Causes for Familial Infantile Myasthenia

  • Myasthenia Gravis

    Andrew G. Engel Oxford University Press, USA , 3 апр. 2012 г. - Всего страниц: 286 Myasthenia Gravis and Myasthenic Disorders, Second Edition is a thoroughly re-written and updated version of the highly successful first edition published in 1999. The current edition begins with an overview of the anatomy and[…][books.google.com]

  • Familial Infantile Myasthenia

    myasthenia.[ncbi.nlm.nih.gov] Abstract We have described an infant with familial infantile myasthenia gravis, the rarest of the myasthenic syndromes, which occurs in infants of nonmyasthenic mothers.[ncbi.nlm.nih.gov] The absence of electromyographic and muscle biopsy abnormalities and the patient's positive response to anticholinesterase therapy supported the diagnosis of familial infantile[ncbi.nlm.nih.gov]

  • Congenital Myasthenic Syndrome

    From Wikidata Jump to navigation Jump to search Human disease familial infantile myasthenia 1 familial limb-girdle myasthenia edit Language Label Description Also known as[wikidata.org] Term Name: congenital myasthenic syndrome Search Ontology: Synonyms: familial infantile myasthenia 1 familial limb-girdle myasthenia Definition: A neuromuscular junction disease[zfin.org] Recently, an additional form of CMS known as familial infantile myasthenia (FIM) was linked to chromosome 17p. The gene for FIM has not yet been identified.[karger.com]

  • Congenital Myasthenic Syndrome

    From Wikidata Jump to navigation Jump to search Human disease familial infantile myasthenia 1 familial limb-girdle myasthenia edit Language Label Description Also known as[wikidata.org] Term Name: congenital myasthenic syndrome Search Ontology: Synonyms: familial infantile myasthenia 1 familial limb-girdle myasthenia Definition: A neuromuscular junction disease[zfin.org] Recently, an additional form of CMS known as familial infantile myasthenia (FIM) was linked to chromosome 17p. The gene for FIM has not yet been identified.[karger.com]

  • Congenital Slow-Channel Myasthenic Syndrome Type 4A

    Recently, an additional form of CMS known as familial infantile myasthenia (FIM) was linked to chromosome 17p. The gene for FIM has not yet been identified.[karger.com] Acronym CMS4A Synonyms CMS1A1 CMS Ia1 Congenital myasthenic syndrome type Ia1 Myasthenia, familial infantile, 1 Keywords Any medical or genetic information present in this[uniprot.org] Familial infantile myasthenia: confusion in terminology.[ncbi.nlm.nih.gov]

  • Congenital Myasthenic Syndrome 14

    infantile myasthenia; familial infantile myasthenia gravis 2; FIM; FIMG2 Alt IDs: OMIM:254210 Definition: A congenital myasthenic syndrome characterized by autosomal recessive[informatics.jax.org] Term Name: congenital myasthenic syndrome Search Ontology: Synonyms: familial infantile myasthenia 1 familial limb-girdle myasthenia Definition: A neuromuscular junction disease[zfin.org] Familial infantile myasthenia (FIM) and a CMS associated with paucity of synaptic vesicles (PSV) have been fully described, and some additional isolated cases of presumed[pediatricneurologybriefs.com]

  • Slow-Channel Congenital Myasthenic Syndrome

    […] deficiency, limb-girdle myasthenia, familial infantile myasthenia Type II: slow channel myasthenic syndrome Type III: sporadic cases Factors limiting the diagnosis of CMS[sites.google.com] Familial infantile myasthenia: confusion in terminology.[ncbi.nlm.nih.gov] Congenital myasthenic syndrome with episodic apnea or familial infantile myasthenia Generalized hypotonia, ptosis, and feeding difficulties are present at birth, and the early[sites.google.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    […] syndrome with episodic ataxia Familial infantile myasthenia gravis CHX10 gene Microphthalmia, isolated-2 Microphthalmia with coloboma-3 Isolated colobomatous microphthalmia[julesberman.blogspot.com] […] cardiomyopathy 6 Familial hypertrophic cardiomyopathy 7 Familial hypertrophic cardiomyopathy 8 Familial infantile myasthenia Familial medullary thyroid carcinoma Familial[pentacorelab.hu] 1 Familial Hypobetalipoproteinemia 1 Familial Hypokalemia-Hypomagnesemia 2 Familial Infantile Myasthenia 3 Familial Juvenile Hyperuricemic Nephropathy 2 Familial Limb-Girdle[preventiongenetics.com]

  • Fatal Infantile Hypertonic Myofibrillar Myopathy

    […] syndrome with episodic ataxia Familial infantile myasthenia gravis CHX10 gene Microphthalmia, isolated-2 Microphthalmia with coloboma-3 Isolated colobomatous microphthalmia[julesberman.blogspot.com] Bardet-Biedl syndrome 14 Joubert syndrome 5 Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6 CHAT (Choline acetyltransferase) gene Presynaptic congenital myasthenia[julesberman.blogspot.com]

  • Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome

    Castelli , Familial infantile myasthenia: a neuromuscular cause of respiratory failure , Child's Nervous System , 10.1007/BF00335178 , 10 , 5 , (347-349) , (1994) . J.[doi.org]

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