spinal muscular atrophy type 1

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spinal muscular atrophy type 1

An autosomal recessive condition (OMIM:253300) characterised by degeneration of the anterior horn cells of the spinal cord, leading to symmetrical muscle weakness and atrophy. Disease severity is inversely proportional to the copy number of SMN2, a copy gene which predominantly produces exon 7-skipped transcripts and only low amounts of full-length transcripts that encode for a protein identical to SMN1. Only about 4% of SMA patients bear one SMN1 copy with an intragenic mutation. SMA1 is the severest form of the SMAs, with onset before age 6 months. Infants never achieve the ability to sit.

Molecular pathology
Defects of SMN1, which encodes a survival motor neuron protein, cause spinal muscular atrophy types 1–4.
References in periodicals archive ?
|| a mye da phur kyi yon tan bcu la || dmyig [written below: gnyi'd] chung ba dang cig || bsdud bsngangs ba dang gnyis || sgra snyan pa grags pa dang gsum || ngan tsong gi sdugs sngal zhi ba dang bzhi || phyi +i sgra skad +gags pa dang lnga || sems myi g.yeng ba dang drug || brtson +grus kyi go ca dang ldan ba dang bdun || sangs rgyas dang byang cub sems dpa+ thams cad dgyes pa dang brgyad || ting nge +dzin thams cad mngon du gyur pa dang dgu || sangs rgyas kyi zhing khams yongs su dag par skye ba dang bcu +o || The source of this list is, I suggest, found in a work attributed (wrongly) to the Tang dynasty scholar Kuiji [phrase omitted] (632-682), a commentary on the Smaller Sukhavativyuha sutra (Amituo jing [phrase omitted]), the Amituojing tongzan shu [phrase omitted].
(71) 'Dul ba'i mdo'i rgya cher 'grel pa (Vinayasutratika), D 4120 ('dul ba),yu, 138b5: dge slob ma'i tshangs par spyod pa la nye bar gnas pa'i sdom pa dang bsnyen par rdzogs par bya ba la yang ngo zhes bya ba ni j dge slob ma mtshams kyi phyi rol na gnas pa rnams kyis tshangs par spyod pa la nye bar gnas pa'i sdom pa mnod pa dang j bsnyen par rdzogs par bya ba chos dang ldan pa'i don de gnyis byung na de dag bsgrub pa'i don duyang dge slong dbyar gnas par khas blangs pa mtshams kyi nang na 'dug pas zhag bdun man chad mtshams kyi phyi rol du 'gro zhing de tshun chad kyis phyir 'khor bar byin gyis brlab bo zhes bya bar sbyar ro.
brgyad/ 'og gi btsan gsum ste rgyal rabs nyi shu rtsa bdun pa lha tho tho ri (1) snyan bshal gyi dus su/ dam pa'i chos kyi dbu brnyes/ 'phags pa rigs gsum mgon po'i rnam 'phrul chos rgyal mes dbon rnam (2) gsum gyi sku dus su/ dam pa'i chos kyi srol gtod cing dar smin rgyas gsum mdzad/ bstan phyi dar dus su lha bla ma ye shes 'od kyis (3) /jo bo dipam ka ra shri jnya na spyan drangs/ mnga' bdag
btsugs pa la spyi ding sang gi dus dge ba la blo gcig legs pa la gros mthun pa ni nyung na 'o na yang dkon mchog gsum la skyabs su 'gro ba'i myi rnam kyi ni/ lhar sangs rgyas bzung gros phugs chos la gtod/ gtsor lta ba sbyang/ tshig spyod rnal du dbab/ 'tsho ba gtsang mr sgrub/ byed dgu chos dang sbyar/ spyi gros gcig tu bzlum/ sgo gnyer so sor blang/ ngan 'gro dgag tu dbyung/ bden gtam dang du blang/ 'dir bcu byas na/ tshe 'di dang phyi ma gnyis gar bde bar 'gyur bas/ tshig bcu po 'di ...
Stoddard's article is followed by Sara Jacoby's "To be or not to be Celibate: Morality and Consort Practices According to the Treasure Revealer Se ra mkha' 'gro's (1892-1940) Auto/biographical Writings." While Stoddard's article focused on the early phyi dar period (late tenth-early twelfth centuries), Jacoby's article focuses on the eastern Tibetan region of Khams in the early twentieth century, and the role of celibacy in the process of revealing treasure teachings (gter ma).
At the later period the king of Guge's elder son namely Kor-re also known as Jangchub became a Buddhist monk and sent young scholars to Kashmir and invited Atisa, a Buddhist teacher to Tibet in 1040 and Chidar (Phyi dar) phase thus made its entry into Tibet.
Thams cadmkhyenpa blo bzang rin chen tshang dbyangs rgya mtsho'i thun mong phyi rnam par thar pa du ku la'i phro mthud rab gsal gser gyi snye ma (du ka la'i kha skong/gser gyisnyema), Lhasa: Bod ljong mi rigs dpe sprun khang
Beside the right elbow, which is raised so that the right hand appears to hold the cakra over the heart, the inscription reads phyi gtor ma'i ca kra, the cakra of the exoteric gtor ma offering.
Gangs ljongs rgyal bstan yongs rdzogs kyi phyi mo snga 'gyur rnying ma'i lugs kyi lta sgom spyod gsum gyi rnam gzhag mdo tsam brjod pa tshes pa'i zla b zhes bya ba, in Gangs can rig brgya'i sgo 'byed lde mig ces bya ba Series, Vol.12.
Most often the diverse forms of fire rituals are classified according to the three following categories: unexcelled (bla-na med-pa), inner (nang), and outer (phyi).