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Familial infantile myasthenia.
Robertson WC, Chun RW, Kornguth SE. Robertson WC, et al. Arch Neurol. 1980 Feb;37(2):117-9. doi: 10.1001/archneur.1980.00500510075018. Arch Neurol. 1980. PMID: 6243929
Familial infantile myasthenia is a rare type of myasthenia that usually occurs in connection with respiratory depression. ...Since the condition responds to anticholinesterase medication, early diagnosis is important. Familial infantile myast …
Familial infantile myasthenia is a rare type of myasthenia that usually occurs in connection with respiratory depressio …
Familial infantile myasthenia: a diagnostic problem.
Matthes JW, Kenna AP, Fawcett PR. Matthes JW, et al. Dev Med Child Neurol. 1991 Oct;33(10):924-9. doi: 10.1111/j.1469-8749.1991.tb14805.x. Dev Med Child Neurol. 1991. PMID: 1743419
The authors report the diagnostic difficulties experienced with two siblings presenting with recurrent apnoeic attacks caused by the rare condition, familial infantile myasthenia. Standard repetitive nerve stimulation studies were normal in both cases, while …
The authors report the diagnostic difficulties experienced with two siblings presenting with recurrent apnoeic attacks caused by the rare co …
Familial infantile myasthenia: a neuromuscular cause of respiratory failure.
Zammarchi E, Donati MA, Masi S, Sarti A, Castelli S. Zammarchi E, et al. Childs Nerv Syst. 1994 Jul;10(5):347-9. doi: 10.1007/BF00335178. Childs Nerv Syst. 1994. PMID: 7954508
The absence of electromyographic and muscle biopsy abnormalities and the patient's positive response to anticholinesterase therapy supported the diagnosis of familial infantile myasthenia. We emphasize the importance of considering the myasthenic syndromes in …
The absence of electromyographic and muscle biopsy abnormalities and the patient's positive response to anticholinesterase therapy supported …
Evidence for genetic heterogeneity supports clinical differences in congenital myasthenic syndromes.
Menold MM, Sadeh M, Lennon F, Blatt I, Goldhammer Y, Yamaoka LH, Vance JM, Pericak-Vance MA. Menold MM, et al. Hum Hered. 1998 Nov-Dec;48(6):325-32. doi: 10.1159/000022824. Hum Hered. 1998. PMID: 9813454
The cause of many cases of CMS has been traced to mutations in the genes for the acetylcholine receptor (AChR) subunits, previously mapped to chromosomes 2 and 17. Recently, an additional form of CMS known as familial infantile myasthenia (FIM) was linked to …
The cause of many cases of CMS has been traced to mutations in the genes for the acetylcholine receptor (AChR) subunits, previously mapped t …