Lakhasly

Online English Summarizer tool, free and accurate!

Summarize result (68%)

although typically milder than is seen in affected males.This subsarcolemmal protein attaches to the sarcolemmal membrane overlying the A and M bands of the myofibrils and consists of four distinct regions or domains: the amino terminus contains 250 amino acids and is related to the N -actin binding site of ?-actinin; the second domain is the largest, with 2,800 amino acids, and contains many repeats, giving it a characteristic rod shape; a third, cysteine-rich domain is related to the carboxyl-terminus of ?- actinin; and the final carboxyl-terminal domain of 400 amino acids is unique to dystrophin and to a dystrophin-related protein encoded by chromosome 6.If the mother of an affected male has normal CK levels, it is unlikely that her daughter can be identified as a carrier by measuring CK. Muscle biopsy of suspected female carriers can detect an additional 10% in whom serum CK is not elevated; a specific genetic diagnosis using polymerase chain reaction (PCR) on peripheral blood is definitive.Approximately 40% of female carriers may be at risk of developing cardiomyopathy or fibrosis (as has been seen by cardiac imaging of carrier females), even in the absence of skeletal muscle weakness.Prepubertal females who are carriers of the dystrophy also have increased serum CK values, with highest levels at 8-12 yr of age.The molecular defects in the dystrophinopathies vary and include intragenic deletions, duplications, or point mutations of nucleotides.These symptomatic females are explained by the Lyon hypothesis, in which the normal X chromosome becomes inactivated and the one with the gene deletion is active (see Chapter 97 ).The full clinical picture of DMD has occurred in several females with Turner syndrome in whom the single X chromosome must have had the Xp21 gene deletion.This gene contains 79 exons of coding sequence and 2.5 Mb of DNA.


Original text

although typically milder than is seen in affected males. These symptomatic females are explained by the Lyon hypothesis, in which the normal X chromosome becomes inactivated and the one with the gene deletion is active (see Chapter 97 ). The full clinical picture of DMD has occurred in several females with Turner syndrome in whom the single X chromosome must have had the Xp21 gene deletion.
The asymptomatic carrier state of DMD is associated with elevated serum CK values in about 50% of cases. The level of increase is usually in the magnitude of hundreds or a few thousand but does not have the extreme values noted in affected males. Prepubertal females who are carriers of the dystrophy also have increased serum CK values, with highest levels at 8-12 yr of age. If the mother of an affected male has normal CK levels, it is unlikely that her daughter can be identified as a carrier by measuring CK. Muscle biopsy of suspected female carriers can detect an additional 10% in whom serum CK is not elevated; a specific genetic diagnosis using polymerase chain reaction (PCR) on peripheral blood is definitive. Approximately 40% of female carriers may be at risk of developing cardiomyopathy or fibrosis (as has been seen by cardiac imaging of carrier females), even in the absence of skeletal muscle weakness.
A 427-kDa cytoskeletal protein known as dystrophin is encoded by the gene at the Xp21.2 locus. This gene contains 79 exons of coding sequence and 2.5 Mb of DNA. This subsarcolemmal protein attaches to the sarcolemmal membrane overlying the A and M bands of the myofibrils and consists of four distinct regions or domains: the amino terminus contains 250 amino acids and is related to the N -actin binding site of α-actinin; the second domain is the largest, with 2,800 amino acids, and contains many repeats, giving it a characteristic rod shape; a third, cysteine-rich domain is related to the carboxyl-terminus of α- actinin; and the final carboxyl-terminal domain of 400 amino acids is unique to dystrophin and to a dystrophin-related protein encoded by chromosome 6. The absence of dystrophin at the sarcolemma disrupts the membrane cytoskeleton and leads to loss secondarily of other components of the cytoskeleton.
The molecular defects in the dystrophinopathies vary and include intragenic deletions, duplications, or point mutations of nucleotides. Approximately 65% of patients have deletions; approximately 10% exhibit duplications, and approximately 10% have point mutations or smaller rearrangements. In less than 1% of cases, a deep intronic mutation may lead to an alteration of splicing and thereby may impact the reading frame. The site or size of the intragenic abnormality does not always correlate well with the phenotypic severity; in both


Summarize English and Arabic text online

Summarize text automatically

Summarize English and Arabic text using the statistical algorithm and sorting sentences based on its importance

Download Summary

You can download the summary result with one of any available formats such as PDF,DOCX and TXT

Permanent URL

ٌYou can share the summary link easily, we keep the summary on the website for future reference,except for private summaries.

Other Features

We are working on adding new features to make summarization more easy and accurate


Latest summaries

بدايات سورة الح...

بدايات سورة الحج تتحدث عن من يصد عن سبيل الله تتحدث عن من جعل أهم هدف وغاية له الصد عن سبيل الله سبح...

أفادت مصادر طبي...

أفادت مصادر طبية بمقتل 78 فلسطينيا في قصف إسرائيلي على غزة منذ فجر اليوم بينهم 38 من منتظري المساعدا...

الفصل الأول: ال...

الفصل الأول: الإطار المفاهيمي للمدن الذكية شهدت المدن تطورا تاريخيا كبيرا بدأ منذ نشأتها كمدن كلاسيك...

1. قانون منع سو...

1. قانون منع سوء معاملة الأطفال ومعالجته (CAPTA) – 1974: يوفر إطارًا لفحص وإبلاغ ومتابعة حالات إساءة...

ان تعاطي المخدر...

ان تعاطي المخدرات من التحديات الاجتماعية و الصحية الواسعة التي ينظر إلي من زاوية أخلاقية أو قانونية...

دشن وكيل محافظة...

دشن وكيل محافظة حضرموت لشئون مديريات الوادي والصحراء الاستاذ عامر سعيد العامري اليوم الحميس الموافق ...

دراسة ظاهرة الم...

دراسة ظاهرة المقاومة المكتسبة فى الفطريات نتيجة استخدام المبيدات الفطرية دراسة تأثير نظم الرى المختل...

(٥) المعرفة الك...

(٥) المعرفة الكمالية ثبت مما تقدم أن المعارف العلمية والاختبارية والخاصة لازمة للإنسان كل اللزوم؛ لأ...

Morocco has rec...

Morocco has recently been making huge preparations to host the African Cup of Nations in 2025 and th...

The Romantic mo...

The Romantic movement, which emerged in the late 18th and early 19th centuries, transformed literatu...

تتركز رؤية القس...

تتركز رؤية القسم على تطوير تقنيات متقدمة للتشخيص المبكر والدقيق للأمراض البكتيرية النباتية، بالاستفا...

نفذ صباح امس ال...

نفذ صباح امس الأربعاء موظفي وموظفات مؤسسة موانئ خليج عدن وقفتهم الاحتجاجية الرابعة امام محكمة استئنا...