Diagnosis Andersen–Tawil syndrome

-


cardiac muscle


two types of andersen–tawil syndrome distinguished genetic causes.



type 1, accounts 60 percent of cases of disorder, caused mutations in kcnj2 gene.
the remaining 40 percent of cases designated type 2; cause of condition in these cases unknown.

the protein made kcnj2 gene forms channel transports potassium ions muscle cells. movement of potassium ions through these channels critical maintaining normal functions of skeletal muscles used movement , cardiac muscle. mutations in kcnj2 gene alter usual structure , function of potassium channels or prevent channels being inserted correctly cell membrane. many mutations prevent molecule called pip2 binding channels , regulating activity. these changes disrupt flow of potassium ions in skeletal , cardiac muscle, leading periodic paralysis , irregular heart rhythm characteristic of andersen–tawil syndrome.researchers have not yet determined role of kcnj2 gene in bone development, , not known how mutations in gene lead developmental abnormalities found in andersen–tawil syndrome.








Comments

Post a Comment

Popular posts from this blog

1940-1941 Pontiac Torpedo

-
1941 pontiac streamliner torpedo 8 sedan coupe (b-body) 1941 pontiac deluxe 6 or 8 torpedo 2-door sedan (a-body) 1941 pontiac deluxe torpedo 8 metropolitan sedan (a-body) in 1940, pontiac introduced torpedo on general motors c-body. along oldsmobile, pontiac had distinction of having 3 of gm s mainstream platforms year, last 1 more year. new c-body 1940 pontiac torpedo shared cadillac series 62, buick roadmaster , super, , oldsmobile series 90 featured cutting-edge torpedo styling. shoulder , hip room on 5 in (127 mm) wider, running boards eliminated , exterior streamlined , 2–3 in (51–76 mm) lower. when combined column-mounted shift lever cars offered true 6 passenger comfort. these changes had been influenced cadillac sixty special. the 1940 torpedo had larger windows , wider seats other pontiacs, front , rear ventiplanes on 4-door sedans , long gracefully streamlined rear decks. concealed hinges used on doors. doors wide. hood ornament had plastic indian head mounted in metal ba
Read more

1920–1923 List of 1920s jazz standards

-
1920 – avalon song written al jolson, buddy desylva , vincent rose. jolson introduced song, taking number 2 on charts in 1921, , used in musicals sinbad , bombo. song possibly written rose, jolson s popularity performer allowed him claim co-credit. opening melody taken giacomo puccini s aria e lucevan le stelle opera tosca, , composers sued puccini s publishers in 1921 $25,000 , subsequent royalties. 1920 – margie song composed con conrad , j. russel robinson lyrics benny davis. introduced original dixieland jazz band , popularized eddie cantor s 1921 recording. song 1 of first hits both conrad , davis, , later used in films margie (1946) , eddie cantor story (1954). name inspired cantor s five-year-old daughter. song known little margie . 1921 – sheik of araby song composed ted snyder lyrics harry b. smith , francis wheeler. written in response popularity of rudolph valentino film sheik. club royal orchestra introduced song on first recording in 1921. 2 recordings of trombonist
Read more

Sovereign Building Zollinger-Harned Company Building

-
the sovereign building in 2011 the whitehall mall store sold leh s department store, several years flagship store on hamilton street in allentown remained vacant. added national register of historic places in 1979. in december 1982 allentown store purchased sovereign realty , development. building renovated , reopened sovereign building in may 1984. renovations included glass-arched entrance pedestrian plaza between hamilton , court streets leading grapefruit-domed lobby decor of antique brass, mirrors, greenery , wing-backed chairs. main floor , basement developed retail spaces, while upper floors turned 42 private office suites. sovereign later went financial difficulties , building sold @ sheriffs sale on 22 september 1989. today building operated office building owner resides in philadelphia.
Read more